Jennifer Puck, MD
Professor
Pediatrics
School of Medicine
Dr. Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed clinical and research training in pediatrics, infectious diseases and immunology at Washington University in St. Louis, Missouri, and Baylor College of Medicine in Houston, Texas.
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After serving on the faculties of the University of Pennsylvania in Philadelphia and the National Human Genome Research Institute, NIH, in Bethesda, Maryland, she joined UCSF in 2006 as Professor of Pediatrics. In addition to caring for patients as an immunologist and teaching biomedical trainees at all levels, Dr. Puck has a basic and translational research program that focuses on human immune disorders as well as mouse models of lymphocyte development. Dr. Puck has used genetic and genomic technology as well as cellular immunology to study the basis of impaired lymphocyte development as well as immune dysregulation. She has published over 215 peer reviewed research papers in addition to over 120 chapters and reviews; she is an editor and contributor to Primary Immunodeficiencies: A Molecular and Genetic Approach, 3rd 2014, and Clinical Immunology, Principles and Practice, 6th ed, 2021. Noting the advantages in survival and outcomes for infants with severe combined immunodeficiency (SCID) after diagnosis and treatment early in life, Dr. Puck conceived and developed a newborn screening test that uses the universally collected dried blood spots to detect SCID. DNA extracted from the blood spots is assayed by PCR to quantitate T cell receptor excision circles (TRECs), a biomarker for the generation of a normal, diverse repertoire of T cells. Absent or low TRECs suggest SCID. This testing, now adopted in newborn screening panels throughout the USA and a growing number of countries, allows infants affected with SCID and other conditions with insufficient T cells to be detected early and treated. Dr. Puck's translational research also includes advances in therapies for individuals with SCID. She and Dr. Mort Cowan lead the first in human gene therapy clinical trial for SCID due to defects of the DNA repair gene Artemis (DCLRE1C). Dr. Puck directs the UCSF Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies. She serves on the Medical Advisory Committee of the Immune Deficiency Foundation, the Committee on Primary Immunodeficiency Disease of the International Union of Immunological Societies. She is PI of the NIH-funded Primary Immune Deficiency Treatment Consortium (PIDTC), part of the Rare Disease Clinical Research Network. She has been elected to the American Society of Clinical Investigation (ASCI), Society for Pediatric Research (SPR), Association of American Physicians (AAP), American Pediatric Society (APS) and National Academy of Medicine. She received the Abbot Award in Clinical and Diagnostic Immunology from the American Society of Microbiology in 2013, the Colonel Harlan Sanders Award for Lifetime Achievement in Genetics from the March of Dimes in 2014, and the Boyle Achievement Award for service to primary immunodeficiencies from the Immune Deficiency Foundation in 2017.
Education & Training
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- M.D. School of Medicine Harvard University 1975
Interests
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- whole exome and whole genome sequencing
- Inherited disorders of the immune system
- newborn screening
- severe combined immunodeficiency
- lymphocyte development
Websites
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- UCSF Cancer Center (cancer.ucsf.edu)
- UCSF Pharmaceutical Sciences and Pharmacogenomics (PSPG) Graduate Program (pspg.ucsf.edu)
- Clinical Profile at UCSF Benioff Children's Hospital (ucsfbenioffchildrens.org)
Grants and Projects
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- Inherited T cell defects: Diagnosis, Mechanisms and Treatments, NIH, 2020-2025
- Inherited T cell defects: Diagnosis, mechanisms and treatments, NIH/NIAID, 2020-2025
- Primary Immunodeficiency Treatment Consortium (PIDTC) (3rd competitive renewal 2019), NIH/NIAID and NCATS ORD, 2009-2024
- Gene Therapy for Artemis-Deficient Severe Combined Immunodeficiency (ARTSCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Stem Cells, California Institute for Regenerative Medicine (CIRM), 2018-2023
- Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening, NIH, 2013-2019
Publications (305)
Top publication keywords:
Immunologic Deficiency SyndromesHematopoietic Stem Cell TransplantationT-LymphocytesNeonatal ScreeningReceptors, Antigen, T-CellJob SyndromeSevere Combined ImmunodeficiencyLymphoproliferative DisordersDried Blood Spot Testingfas ReceptorX ChromosomeLymphopeniaGenetic TherapyAutoimmune DiseasesReceptors, Interleukin-2
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COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
Journal of clinical immunology 2024 McDonnell J, Cousins K, Younger MEM, Lane A, Abolhassani H, Abraham RS, Al-Tamemi S, Aldave-Becerra JC, Al-Faris EH, Alfaro-Murillo A, AlKhater SA, Alsaati N, Doss AMA, Anderson M, Angarola E, Ariue B… -
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Clinical immunology (Orlando, Fla.) 2024 Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LF, Buckley R, O'Reilly R, Cuvelier GDE, Chandra S, Bednarski J, Chaudhury S, Moore TB, Haines H, Dávila Saldaña BJ, … -
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study.
The Journal of allergy and clinical immunology 2024 Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Deal CL, Kapoor N, Murguía-Favela L, Falcone EL, Prasad VK, Touzot F, Bleesing JJ, Chandrakasan S, … -
Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.
Blood 2023 Leiding JW, Arnold DE, Parikh S, Logan B, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi K, Chellapandian D, Si Lim SJ, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, … -
Integrome signatures of lentiviral gene therapy for SCID-X1 patients.
Science advances 2023 Yan KK, Condori J, Ma Z, Metais JY, Ju B, Ding L, Dhungana Y, Palmer LE, Langfitt DM, Ferrara F, Throm R, Shi H, Risch I, Bhatara S, Shaner B, Lockey TD, Talleur AC, Easton J, Meagher MM, Puck JM, …
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Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.
The Journal of allergy and clinical immunology 2023 Eissa H, Thakar MS, Shah AJ, Logan BR, Griffith LM, Dong H, Parrott RE, O'Reilly RJ, Dara J, Kapoor N, Forbes Satter L, Chandra S, Kapadia M, Chandrakasan S, Knutsen A, Jyonouchi SC, Molinari L, Rayes… -
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
The Journal of allergy and clinical immunology 2023 Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon … -
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Lancet (London, England) 2023 Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, … -
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Blood 2023 Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kusnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, … -
Lentiviral Gene Therapy for Artemis-Deficient SCID.
The New England journal of medicine 2022 Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M, Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L, Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK, Petrovic A,… -
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Journal of clinical immunology 2022 Forlanini F, Chan A, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ -
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
The Journal of allergy and clinical immunology 2022 Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD… -
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
The Journal of allergy and clinical immunology 2022 Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A,… -
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Journal of clinical immunology 2022 Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, … -
A Spot of Good News: Israeli Experience With SCID Newborn Screening.
The journal of allergy and clinical immunology. In practice 2022 Puck JM -
Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
Frontiers in immunology 2022 Tran P, Gober L, Garabedian EK, Fuleihan RL, Puck JM, Sullivan KE, Spergel JM, Ruffner MA -
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
Blood 2022 Cuvelier GDE, Logan BR, Prockop SE, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield MS, Ayoub PG, Moore TB, Dorsey MJ, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, … -
Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation.
The Journal of allergy and clinical immunology 2022 Labrosse R, Boufaied I, Bourdin B, Gona S, Randolph HE, Logan BR, Bourbonnais S, Berthe C, Chan W, Buckley RH, Parrott RE, Cuvelier GDE, Kapoor N, Chandra S, Dávila Saldaña BJ, Eissa H, Goldman FD, … -
Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.
Frontiers in immunology 2022 Sertori R, Lin JX, Martinez E, Rana S, Sharo A, Kazemian M, Sunderam U, Andrake M, Shinton S, Truong B, Dunbrack RM, Liu C, Srinivasan R, Brenner SE, Seroogy CM, Puck JM, Leonard WJ, Wiest DL -
Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.
Nature communications 2022 De Ravin SS, Liu S, Sweeney CL, Brault J, Whiting-Theobald N, Ma M, Liu T, Choi U, Lee J, O'Brien SA, Quackenbush P, Estwick T, Karra A, Docking E, Kwatemaa N, Guo S, Su L, Sun Z, Zhou S, Puck J, … -
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology 2022 Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, … -
Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy.
Journal of clinical immunology 2022 Arnold DE, Chellapandian D, Parikh S, Mallhi K, Marsh RA, Heimall JR, Grossman D, Chitty-Lopez M, Murguia-Favela L, Gennery AR, Boulad F, Arbuckle E, Cowan MJ, Dvorak CC, Griffith LM, Haddad E, Kohn … -
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.
Frontiers in immunology 2022 Smith KL, Dai D, Modi BP, Sara R, Garabedian E, Marsh RA, Puck J, Secord E, Sullivan KE, Turvey SE, Biggs CM, USIDNET Consortium -
Establishing Newborn Screening for SCID in the USA; Experience in California.
International journal of neonatal screening 2021 Puck JM, Gennery AR -
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
The Journal of allergy and clinical immunology 2021 Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M -
Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution.
The Journal of allergy and clinical immunology 2021 Delmonte OM, Castagnoli R, Yu J, Dvorak CC, Cowan MJ, Dávila Saldaña BJ, De Ravin SS, Mamcarz E, Chang CK, Daley SR, Griffith LM, Notarangelo LD, Puck JM -
Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Clinical immunology (Orlando, Fla.) 2021 Smith H, Scalchunes C, Cowan MJ, Puck J, Heimall J -
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
The Journal of experimental medicine 2021 Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson … -
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Journal of clinical immunology 2021 Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, … -
Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers.
Journal of clinical immunology 2021 Dorsey M, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, … -
SCID newborn screening: What we've learned.
The Journal of allergy and clinical immunology 2021 Currier R, Puck JM -
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
Journal of clinical immunology 2021 Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA -
Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients.
Transplant infectious disease : an official journal of the Transplantation Society 2020 Forlanini F, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ -
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Journal of clinical immunology 2020 Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, … -
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
Journal of clinical immunology 2020 Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, … -
Successful SCID gene therapy in infant with disseminated BCG.
The journal of allergy and clinical immunology. In practice 2020 Maron G, Kaste S, Bahrami A, Neel M, Malech HL, Puck JM, Cowan MJ, Gottschalk S, Mamcarz E -
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
Journal of clinical immunology 2020 Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB -
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nature medicine 2020 Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou … -
Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.
Blood advances 2020 Bifsha P, Leiding JW, Pai SY, Colamartino ABL, Hartog N, Church JA, Oshrine BR, Puck JM, Markert ML, Haddad E -
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Blood 2020 Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, … -
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
International journal of neonatal screening 2020 Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R -
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Frontiers in immunology 2020 Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA… -
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Journal of clinical immunology 2020 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, … -
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology 2020 Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE -
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology 2020 Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE -
Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection.
Journal of clinical immunology 2019 Seghezzo SP, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ -
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency.
Nature biotechnology 2019 Nguyen DN, Roth TL, Li PJ, Chen PA, Apathy R, Mamedov MR, Vo LT, Tobin VR, Goodman D, Shifrut E, Bluestone JA, Puck JM, Szoka FC, Marson A -
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
The Journal of allergy and clinical immunology 2019 Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, … -
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Journal of clinical immunology 2019 Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, … -
Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects.
The Journal of allergy and clinical immunology 2019 Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM -
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
The New England journal of medicine 2019 Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, … -
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019 Dvorak CC, Long-Boyle J, Dara J, Melton A, Shimano KA, Huang JN, Puck JM, Dorsey MJ, Facchino J, Chang CK, Cowan MJ -
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
The journal of allergy and clinical immunology. In practice 2019 Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, … -
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Nature immunology 2019 Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn… -
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Pediatrics 2019 Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, … -
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Immunological reviews 2019 Puck JM -
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Immunology and allergy clinics of North America 2018 Dorsey MJ, Puck JM -
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
The Journal of allergy and clinical immunology 2018 Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E -
The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).
The Journal of allergy and clinical immunology 2018 Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, Kohn DB, Pai SY, Notarangelo L, Shearer W, Prockop S, Kapoor N, Heimall J, Chaudhury S, Shyr D, Chandra S, Cuvelier G, Moore T, Shenoy … -
SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.
Blood 2018 Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, Small TN, Chaisson J, Dvorak CC, Murnane M, Kapoor N, Abdel-Azim H, Hanson IC, Martinez C, Bleesing JJH, Chandra S, Smith AR, … -
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
The Hastings Center report 2018 Puck JM -
B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.
Blood 2018 Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, … -
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Journal of clinical immunology 2017 Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, … -
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Journal of clinical immunology 2017 Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang… -
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Human mutation 2017 Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY -
Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.
Blood 2017 Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, … -
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
The journal of allergy and clinical immunology. In practice 2017 Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham… -
Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening.
Blood advances 2017 Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ -
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
The Journal of allergy and clinical immunology 2017 Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang… -
Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management.
International journal of neonatal screening 2017 Dorsey M, Puck J -
Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, Neven B, Slatter M, Roderick S, Baker KS, Dietz AC, Duncan C, Griffith LM, Notarangelo L, Pulsipher MA, Cowan MJ -
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.
Bone marrow transplantation 2017 Dvorak CC, Patel K, Puck JM, Wahlstrom J, Dorsey MJ, Adams R, Facchino J, Cowan MJ -
Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.
Journal of clinical immunology 2017 Jyonouchi S, Jongco AM, Puck J, Sullivan KE -
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.
The Journal of allergy and clinical immunology 2017 Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM -
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
The Journal of experimental medicine 2017 Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio … -
Newborn Sequencing in Genomic Medicine and Public Health.
Pediatrics 2017 Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF… -
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ -
Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease.
Journal of clinical immunology 2016 Nguyen A, Patel K, Puck J, Dorsey M -
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
The New England journal of medicine 2016 Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM -
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
The Journal of clinical investigation 2016 Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, … -
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.
The Journal of allergy and clinical immunology 2016 Dulau Florea AE, Braylan RC, Schafernak KT, Williams KW, Daub J, Goyal RK, Puck JM, Rao VK, Pittaluga S, Holland SM, Uzel G, Calvo KR -
Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.
Human gene therapy 2016 Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA, Karlen AD, Khan S, Cornetta K, Rothe M, Schambach A, Kohn DB, Malech HL, McIvor RS, Puck JM, Cowan MJ -
Recombinant human hyaluronidase facilitated subcutaneous immunoglobulin treatment in pediatric patients with primary immunodeficiencies: long-term efficacy, safety and tolerability.
Immunotherapy 2016 Wasserman RL, Melamed I, Kobrynski L, Puck J, Gupta S, Doralt J, Sharkhawy M, Engl W, Leibl H, Gelmont D, Yel L -
Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency.
Journal of clinical immunology 2016 Wasserman RL, Melamed I, Stein MR, Engl W, Sharkhawy M, Leibl H, Puck J, Rubinstein A, Kobrynski L, Gupta S, Grant AJ, Ratnayake A, Richmond WG, Church J, Yel L, Gelmont D -
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Journal of clinical immunology 2016 Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, Geha RS, Cunningham CK, Bonilla FA, Conley ME, Ferdman RM, Hernandez-Trujillo V, Puck JM, Sullivan K, Secord EA, Ramesh M, Cunningham… -
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Blood 2016 Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, … -
Primary Immune Deficiency Treatment Consortium (PIDTC) update.
The Journal of allergy and clinical immunology 2016 Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E, workshop participants -
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
The Journal of experimental medicine 2016 Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM -
Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.
Pediatrics 2016 Joseph G, Chen F, Harris-Wai J, Puck JM, Young C, Koenig BA -
USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J -
Severe combined immunodeficiencies and related disorders.
Nature reviews. Disease primers 2015 Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM -
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Journal of clinical immunology 2015 Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL,… -
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
The Journal of clinical investigation 2015 Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, … -
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Journal of clinical immunology 2015 Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C,… -
Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.
Journal of clinical immunology 2015 Ahmed A, Reith W, Puck JM, Cheng LE -
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
Journal of clinical immunology 2015 Hsu AP, Pittaluga S, Martinez B, Rump AP, Raffeld M, Uzel G, Puck JM, Freeman AF, Holland SM -
History and current status of newborn screening for severe combined immunodeficiency.
Seminars in perinatology 2015 Kwan A, Puck JM -
Biotechnology. A prudent path forward for genomic engineering and germline gene modification.
Science (New York, N.Y.) 2015 Baltimore D, Berg P, Botchan M, Carroll D, Charo RA, Church G, Corn JE, Daley GQ, Doudna JA, Fenner M, Greely HT, Jinek M, Martin GS, Penhoet E, Puck J, Sternberg SH, Weissman JS, Yamamoto KR -
Successful newborn screening for SCID in the Navajo Nation.
Clinical immunology (Orlando, Fla.) 2015 Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck JM -
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Journal of clinical immunology 2015 Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA -
Coronin-1A: immune deficiency in humans and mice.
Journal of clinical immunology 2015 Punwani D, Pelz B, Yu J, Arva NC, Schafernak K, Kondratowicz K, Makhija M, Puck JM -
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Journal of clinical immunology 2015 Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM -
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA 2014 Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan … -
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
The New England journal of medicine 2014 Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA… -
A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
Pediatric transplantation 2014 Dvorak CC, Horn BN, Puck JM, Adams S, Veys P, Czechowicz A, Cowan MJ -
A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
Pediatric transplantation 2014 Dvorak CC, Horn BN, Puck JM, Czechowicz A, Shizuru JA, Ko RM, Cowan MJ -
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Frontiers in immunology 2014 Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K… -
USIDNET: a strategy to build a community of clinical immunologists.
Journal of clinical immunology 2014 Sullivan KE, Puck JM, Notarangelo LD, Fuleihan R, Caulder T, Wang C, Boyle M, Cunningham-Rundles C -
Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.
The Journal of allergy and clinical immunology 2014 Medical Advisory Committee of the Immune Deficiency Foundation, Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, Bonilla FA, Conley ME, Cunningham-Rundles C, Filipovich AH, Fuleihan… -
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
The Journal of allergy and clinical immunology 2014 Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, … -
Bone density and fractures in autosomal dominant hyper IgE syndrome.
Journal of clinical immunology 2014 Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF -
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Blood 2014 Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ -
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
The Journal of allergy and clinical immunology 2013 Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin… -
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
The Journal of allergy and clinical immunology 2013 Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ -
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
The Journal of allergy and clinical immunology 2013 Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, … -
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.
Journal of clinical immunology 2013 Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, … -
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
The Journal of allergy and clinical immunology 2013 Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM -
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Journal of clinical immunology 2013 Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel… -
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
The Journal of allergy and clinical immunology 2013 Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM -
Reply: To PMID 22285280.
The Journal of allergy and clinical immunology 2013 Puck JM -
Newborn screening for SCID identifies patients with ataxia telangiectasia.
Journal of clinical immunology 2012 Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J -
An update on the hyper-IgE syndromes.
Arthritis research & therapy 2012 Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B -
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
The Journal of allergy and clinical immunology 2012 Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO -
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
Molecular genetics and metabolism 2012 Punwani D, Gonzalez-Espinosa D, Comeau AM, Dutra A, Pak E, Puck J -
Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency.
The Journal of allergy and clinical immunology 2012 Wasserman RL, Melamed I, Stein MR, Gupta S, Puck J, Engl W, Leibl H, McCoy B, Empson VG, Gelmont D, Schiff RI, IGSC, 10% with rHuPH20 Study Group -
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.
Journal of immunology (Baltimore, Md. : 1950) 2012 Punwani D, Simon K, Choi Y, Dutra A, Gonzalez-Espinosa D, Pak E, Naradikian M, Song CH, Zhang J, Bodine DM, Puck JM -
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
The Journal of allergy and clinical immunology 2012 Puck JM -
Neonatal screening for severe combined immunodeficiency.
Current opinion in pediatrics 2011 Puck JM -
The case for newborn screening for severe combined immunodeficiency and related disorders.
Annals of the New York Academy of Sciences 2011 Puck JM -
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Frontiers in immunology 2011 Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger … -
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Blood 2011 Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo… -
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Journal of clinical immunology 2011 Puck JM, Routes J, Filipovich AH, Sullivan K -
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM -
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Pediatric transplantation 2011 Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, Roberts J, Kavanau K, Dunn E, Stiehm ER, Lewis DB, Umetsu DT, Puck JM, Cowan MJ -
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
Molecular genetics and metabolism 2011 Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M -
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
Clinical immunology (Orlando, Fla.) 2011 Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T -
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Clinical immunology (Orlando, Fla.) 2010 Chan A, Scalchunes C, Boyle M, Puck JM -
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
The Journal of experimental medicine 2010 Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin … -
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
Blood 2010 Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK -
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2010 Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitanska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery … -
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology 2009 Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT, Workshop … -
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2009 Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, … -
Primary immunodeficiencies: 2009 update.
The Journal of allergy and clinical immunology 2009 International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, … -
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS).
Pediatric blood & cancer 2009 Rao VK, Price S, Perkins K, Aldridge P, Tretler J, Davis J, Dale JK, Gill F, Hartman KR, Stork LC, Gnarra DJ, Krishnamurti L, Newburger PE, Puck J, Fleisher T -
Treatment of patients with new onset Type 1 diabetes with a single course of anti-CD3 mAb Teplizumab preserves insulin production for up to 5 years.
Clinical immunology (Orlando, Fla.) 2009 Herold KC, Gitelman S, Greenbaum C, Puck J, Hagopian W, Gottlieb P, Sayre P, Bianchine P, Wong E, Seyfert-Margolis V, Bourcier K, Bluestone JA, Immune Tolerance Network ITN007AI Study Group -
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Clinical immunology (Orlando, Fla.) 2008 Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM -
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
The Journal of allergy and clinical immunology 2008 Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT -
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Nature immunology 2008 Shiow LR, Roadcap DW, Paris K, Watson SR, Grigorova IL, Lebet T, An J, Xu Y, Jenne CN, Föger N, Sorensen RU, Goodnow CC, Bear JE, Puck JM, Cyster JG -
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Genetics in medicine : official journal of the American College of Medical Genetics 2008 Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM -
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
The Journal of experimental medicine 2008 Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, Mahlaoui N, Gineau L, Alcaïs A, Lamaze C, Puck JM, de Saint Basile G, Khayat CD, Mikhael R, Casanova JL -
Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008 Cowan MJ, Neven B, Cavazanna-Calvo M, Fischer A, Puck J -
Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.
Oral diseases 2008 Domingo DL, Freeman AF, Davis J, Puck JM, Tianxia W, Holland SM, Hart TC -
Population-based newborn screening for severe combined immunodeficiency.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008 Puck JM -
Neonatal screening for severe combined immune deficiency.
Current opinion in allergy and clinical immunology 2007 Puck JM -
Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome.
American journal of hematology 2007 Rao VK, Dowdell KC, Dale JK, Dugan F, Pesnicak L, Bi LL, Hoffmann V, Penzak S, Avila NA, Fleisher TA, Puck JM, Straus SE -
The hyper-IgE syndrome is not caused by a microdeletion syndrome.
Immunogenetics 2007 Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B -
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.
The Journal of allergy and clinical immunology 2007 Puck JM, SCID Newborn Screening Working Group -
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
The Journal of allergy and clinical immunology 2007 Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J, International Union of Immunological Societies … -
Primary immunodeficiency: meeting the challenges.
The Journal of allergy and clinical immunology 2007 Shearer WT, Malech HL, Puck JM -
STAT3 mutations in the hyper-IgE syndrome.
The New England journal of medicine 2007 Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, … -
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Clinical immunology (Orlando, Fla.) 2007 Butte MJ, Haines C, Bonilla FA, Puck J -
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.
BMC medical genetics 2007 Bi LL, Pan G, Atkinson TP, Zheng L, Dale JK, Makris C, Reddy V, McDonald JM, Siegel RM, Puck JM, Lenardo MJ, Straus SE -
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2007 Oliveira JB, Bidère N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ -
The hyper IgE syndrome and mutations in TYK2.
Immunity 2007 Woellner C, Schäffer AA, Puck JM, Renner ED, Knebel C, Holland SM, Plebani A, Grimbacher B -
Brain abnormalities in patients with hyperimmunoglobulin E syndrome.
Pediatrics 2007 Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM -
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.
Blood 2007 Chinen J, Davis J, De Ravin SS, Hay BN, Hsu AP, Linton GF, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald NL, Malech HL, Puck JM -
Causes of death in hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2007 Freeman AF, Kleiner DE, Nadiminti H, Davis J, Quezado M, Anderson V, Puck JM, Holland SM -
Severe combined immunodeficiency: new advances in diagnosis and treatment.
Immunologic research 2007 Puck JM -
Lessons from the Wiskott-Aldrich syndrome.
The New England journal of medicine 2006 Puck JM, Candotti F -
Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.
Pediatrics 2006 Freeman AF, Davis J, Anderson VL, Barson W, Darnell DN, Puck JM, Holland SM -
Immunodeficiencies: injecting some safety into SCID gene therapy?
Gene therapy 2006 Candotti F, Roifman C, Puck JM -
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
Journal of human genetics 2006 Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek Á, Maródi L, Kajtár P, Kosztolányi G, Puck JM -
Gene therapy for immune disorders: good news tempered by bad news.
The Journal of allergy and clinical immunology 2006 Puck JM, Malech HL -
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
The Journal of allergy and clinical immunology 2006 Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Comm -
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
American journal of hematology 2006 Rao VK, Carrasquillo JA, Dale JK, Bacharach SL, Whatley M, Dugan F, Tretler J, Fleisher T, Puck JM, Wilson W, Jaffe ES, Avila N, Chen CC, Straus SE -
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Human genetics 2006 Zhu S, Hsu AP, Vacek MM, Zheng L, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM -
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.
Molecular and cellular probes 2005 Niemela JE, Hsu AP, Fleisher TA, Puck JM -
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).
Clinical immunology (Orlando, Fla.) 2005 Vacek MM, Schäffer AA, Davis J, Fischer RE, Dale JK, Adams S, Straus SE, Puck JM -
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.
The American journal of surgical pathology 2005 Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES -
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Nature genetics 2005 Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, … -
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.
British journal of haematology 2005 Rao VK, Dugan F, Dale JK, Davis J, Tretler J, Hurley JK, Fleisher T, Puck J, Straus SE -
Development of population-based newborn screening for severe combined immunodeficiency.
The Journal of allergy and clinical immunology 2005 Chan K, Puck JM -
Hyper-IgE syndromes.
Immunological reviews 2005 Grimbacher B, Holland SM, Puck JM -
Perspectives of gene therapy for primary immunodeficiencies.
Current opinion in allergy and clinical immunology 2004 Chinen J, Puck JM -
Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds.
EMBO reports 2004 Legembre P, Barnhart BC, Zheng L, Vijayan S, Straus SE, Puck J, Dale JK, Lenardo M, Peter ME -
Somatic mutations--not just for cancer anymore.
The New England journal of medicine 2004 Puck JM, Straus SE -
Dermatitis and the newborn rash of hyper-IgE syndrome.
Archives of dermatology 2004 Eberting CL, Davis J, Puck JM, Holland SM, Turner ML -
Primary immunodeficiency diseases: an update.
The Journal of allergy and clinical immunology 2004 Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R, International Union of Immunological Societies Primary Immunodeficiency diseases classification comm -
A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.
Journal of the American Academy of Dermatology 2004 Tock CL, Holland SM, Puck JM, Turner ML -
Successes and risks of gene therapy in primary immunodeficiencies.
The Journal of allergy and clinical immunology 2004 Chinen J, Puck JM -
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
American journal of medical genetics. Part A 2004 Hay BN, Martin JE, Karp B, Davis J, Darnell D, Solomon B, Turner M, Holland SM, Puck JM -
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
Genome research 2004 Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R -
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2004 Hale LP, Buckley RH, Puck JM, Patel DD -
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.
The Journal of pediatrics 2004 Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B -
Immune disorders caused by defects in the caspase cascade.
Current allergy and asthma reports 2003 Puck JM, Zhu S -
Immunodeficiency disorders.
Hematology. American Society of Hematology. Education Program 2003 Cooper MD, Lanier LL, Conley ME, Puck JM -
Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.) 2002 Goldman FD, Vibhakar R, Puck JM, Straus SE, Ballas ZK, Hollenback C, Loew T, Thompson A, Song K, Cook RT -
Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice.
European journal of immunology 2002 Choi Y, Simon-Stoos K, Puck JM -
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow.
Proceedings of the National Academy of Sciences of the United States of America 2002 Licht T, Haskins M, Henthorn P, Kleiman SE, Bodine DM, Whitwam T, Puck JM, Gottesman MM, Melniczek JR -
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival.
Blood 2002 Myers LA, Patel DD, Puck JM, Buckley RH -
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
Blood 2001 Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rösen-Wolff A, Peters AM, Sneller MC, Hallahan CW, Wang J, Fischer RE, Jackson CE, Lin AY, Bäumler C, Siegert E, Marx A, Vaishnaw AK, Grodzicky T, … -
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression.
Blood 2001 Lopatin U, Yao X, Williams RK, Bleesing JJ, Dale JK, Wong D, Teruya-Feldstein J, Fritz S, Morrow MR, Fuss I, Sneller MC, Raffeld M, Fleisher TA, Puck JM, Strober W, Jaffe ES, Straus SE -
Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy 2001 Avilés Mendoza GJ, Seidel NE, Otsu M, Anderson SM, Simon-Stoos K, Herrera A, Hoogstraten-Miller S, Malech HL, Candotti F, Puck JM, Bodine DM -
The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis.
Clinical reviews in allergy & immunology 2001 Fleisher TA, Puck JM, Strober W, Dale JK, Lenardo MJ, Siegel RM, Straus SE, Bleesing JJ -
Family pictures: growing up with a brother with X-linked severe combined immunodeficiency.
American journal of medical genetics 2001 Fanos JH, Puck JM -
Primary immunodeficiency mutation databases.
Advances in genetics 2001 Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF… -
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.
American journal of medical genetics 2001 Fanos JH, Davis J, Puck JM -
A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies.
Clinical immunology (Orlando, Fla.) 2000 Puck JM -
Genetic testing and screening in pediatric populations.
The Nursing clinics of North America 2000 Davis J, Krasnewich D, Puck JM -
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2000 Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP -
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2000 O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM -
Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy 2000 Otsu M, Anderson SM, Bodine DM, Puck JM, O'Shea JJ, Candotti F -
Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.
Current opinion in pediatrics 1999 Jackson CE, Puck JM -
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.) 1999 Choi Y, Ramnath VR, Eaton AS, Chen A, Simon-Stoos KL, Kleiner DE, Erikson J, Puck JM -
Genetic linkage of hyper-IgE syndrome to chromosome 4.
American journal of human genetics 1999 Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, … -
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
Cell 1999 Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ -
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics 1999 Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM -
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features.
Radiology 1999 Avila NA, Dwyer AJ, Dale JK, Lopatin UA, Sneller MC, Jaffe ES, Puck JM, Straus SE -
Severe combined immunodeficiency in an infant with multiple congenital abnormalities.
The Journal of allergy and clinical immunology 1999 Tangsinmankong N, Day NK, Nelson RP, Puck J, Good RA -
Canine lymphocyte expression of retrovirally transferred human common gamma chain.
Annals of the New York Academy of Sciences 1999 Whitwam T, Haskins ME, Henthorn PS, Bodine DM, Puck JM -
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.
Proceedings of the National Academy of Sciences of the United States of America 1999 Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, Jackson CE, Puck JM, Dale J, Straus SE, Peter ME, Krammer PH, Fesik S, Lenardo MJ -
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome.
Annals of internal medicine 1999 Straus SE, Sneller M, Lenardo MJ, Puck JM, Strober W -
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
American journal of human genetics 1999 Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM -
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
The New England journal of medicine 1999 Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM -
Pathological findings in human autoimmune lymphoproliferative syndrome.
The American journal of pathology 1998 Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, Sneller MC, Puck JM, Lenardo MJ, Elenitoba-Johnson KS, Lin AY, Raffeld M, Jaffe ES -
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
The Journal of pediatrics 1998 Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM -
Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes.
Blood 1998 Whitwam T, Haskins ME, Henthorn PS, Kraszewski JN, Kleiman SE, Seidel NE, Bodine DM, Puck JM -
The timing of twinning: more insights from X inactivation.
American journal of human genetics 1998 Puck JM -
Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency.
Gene therapy 1998 Kleiman SE, Pastan I, Puck JM, Gottesman MM -
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome.
The New England journal of medicine 1998 Grimbacher B, Holland SM, Puck JM -
X inactivation in females with X-linked disease.
The New England journal of medicine 1998 Puck JM, Willard HF -
Primary immunodeficiency diseases.
JAMA 1997 Puck JM -
The Canale-Smith syndrome.
The New England journal of medicine 1997 Straus SE, Lenardo M, Puck JM -
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Human genetics 1997 Puck JM, Middelton L, Pepper AE -
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
Blood 1997 Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH -
Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency.
The Journal of biological chemistry 1997 Taylor N, Candotti F, Smith S, Oakes SA, Jahn T, Isakov J, Puck JM, O'Shea JJ, Weinberg K, Johnston JA -
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
The Journal of pediatrics 1997 Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM -
Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.
Experimental hematology 1997 Orlic D, Girard LJ, Lee D, Anderson SM, Puck JM, Bodine DM -
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity.
Journal of immunology (Baltimore, Md. : 1950) 1997 Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, Lenardo MJ, Straus SE -
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Blood 1997 Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE -
ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Seminars in immunology 1997 Puck JM, Sneller MC -
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
Journal of clinical immunology 1997 O'Marcaigh AS, Puck JM, Pepper AE, De Santes K, Cowan MJ -
Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis.
Journal of immunology (Baltimore, Md. : 1950) 1996 Kim PK, Dutra AS, Chandrasekharappa SC, Puck JM -
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow.
The New England journal of medicine 1996 Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, Johnson MP, Abella EM, Harrison DD, Zanjani ED -
IL2RGbase: a database of gamma c-chain defects causing human X-SCID.
Immunology today 1996 Puck JM -
Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit.
The EMBO journal 1996 Lai SY, Molden J, Liu KD, Puck JM, White MD, Goldsmith MA -
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
Nature genetics 1996 Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE -
Retroviral-mediated gene correction for X-linked severe combined immunodeficiency.
Blood 1996 Candotti F, Johnston JA, Puck JM, Sugamura K, O'Shea JJ, Blaese RM -
Gene localization and syntenic mapping by FISH in the dog.
Cytogenetics and cell genetics 1996 Dutra AS, Mignot E, Puck JM -
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Human molecular genetics 1995 Tassara C, Pepper AE, Puck JM -
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
American journal of human genetics 1995 Pepper AE, Buckley RH, Small TN, Puck JM -
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.
Cell 1995 Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM -
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
The Journal of clinical investigation 1995 Puck JM, Pepper AE, Bédard PM, Laframboise R -
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency.
Genomics 1994 Deschênes SM, Puck JM, Dutra AS, Somberg RL, Felsburg PJ, Henthorn PS -
IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease.
Genomics 1994 Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ -
Molecular and genetic basis of X-linked immunodeficiency disorders.
Journal of clinical immunology 1994 Puck JM -
Seven chromosome 22 STR polymorphisms.
Human molecular genetics 1994 Porter JC, Puck JM -
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
Cytogenetics and cell genetics 1994 Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL -
Molecular basis for three X-linked immune disorders.
Human molecular genetics 1994 Puck JM -
A microsatellite-based multipoint index map of human chromosome 22.
Genomics 1993 Buetow KH, Duggan D, Yang B, Ludwigsen S, Puck J, Porter J, Budarf M, Spielman R, Emanuel BS -
Painful discoloration of the fingernails in a 15-year-old boy.
The Pediatric infectious disease journal 1993 Coffin SE, Puck J -
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
Human molecular genetics 1993 Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS -
Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.
American journal of human genetics 1993 Puck JM, Conley ME, Bailey LC -
T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency.
The Journal of pediatrics 1993 Himelstein BP, Puck J, August C, Pierson G, Bunin N -
Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1993 Ammari LK, Puck JM, McGowan KL -
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Pediatric research 1993 Puck JM -
Twelve new polymorphic microsatellites on human chromosome 22.
Genomics 1993 Porter JC, Ram KT, Puck JM -
X-linked immunodeficiencies.
Advances in human genetics 1993 Puck JM -
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
American journal of human genetics 1992 Puck JM, Stewart CC, Nussbaum RL -
Dinucleotide repeat polymorphism at the DXS441 locus.
Nucleic acids research 1992 Ram KT, Barker DF, Puck JM -
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
American journal of human genetics 1991 Hirschhorn R, Chakravarti V, Puck J, Douglas SD -
The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.
Genomics 1991 Henthorn PS, Stewart CC, Kadesch T, Puck JM -
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
The Journal of pediatrics 1991 Conley ME, Burks AW, Herrod HG, Puck JM -
A high-frequency RFLP at the human TFE3 locus on the X chromosome.
Nucleic acids research 1991 Puck JM, Stewart CC, Henthorn PS -
An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies.
The Journal of infectious diseases 1990 Marshall GS, Ricciardi RP, Rando RF, Puck J, Ge RW, Plotkin SA, Gönczöl E -
Clonal analysis of solitary follicular nodules in the thyroid.
The American journal of pathology 1990 Hicks DG, LiVolsi VA, Neidich JA, Puck JM, Kant JA -
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.
Blood 1990 Puck JM, Siminovitch KA, Poncz M, Greenberg CR, Rottem M, Conley ME -
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
The Journal of pediatrics 1990 Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM -
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.
Clinical immunology and immunopathology 1990 Conley ME, Sullivan JL, Neidich JA, Puck JM -
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.
The Journal of clinical investigation 1990 Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM -
Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis.
The New England journal of medicine 1990 Puck JM, Krauss CM, Puck SM, Buckley RH, Conley ME -
RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP.
Nucleic acids research 1989 Smead DL, Nussbaum RL, Puck JM -
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.
American journal of human genetics 1989 Puck JM, Nussbaum RL, Smead DL, Conley ME -
Evaluation of the stability and sporicidal activity of three glutaraldehyde solutions during hospital continuous use.
Journal de pharmacie de Belgique 1989 Vanhaecke E, Renders W, Decleraq B, Logghe M, Puck J, Renders M -
Report of the committee on the genetic constitution of the X chromosome.
Cytogenetics and cell genetics 1989 Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE -
Definition of the gene loci in X-linked immunodeficiencies.
Immunological investigations 1988 Conley ME, Puck JM -
Carrier detection in typical and atypical X-linked agammaglobulinemia.
The Journal of pediatrics 1988 Conley ME, Puck JM -
Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.
Proceedings of the National Academy of Sciences of the United States of America 1988 Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM -
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
The Journal of clinical investigation 1987 Puck JM, Nussbaum RL, Conley ME -
Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex.
Nature 1986 Gold DP, Puck JM, Pettey CL, Cho M, Coligan J, Woody JN, Terhorst C -
Branhamella catarrhalis sepsis.
Pediatric infectious disease 1985 Van Lierde S, Puck JM, Campos JM, Plotkin SA -
Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome.
The Journal of infectious diseases 1985 Lewis DE, Puck JM, Babcock GF, Rich RR -
Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms.
Science (New York, N.Y.) 1985 Croce CM, Isobe M, Palumbo A, Puck J, Ming J, Tweardy D, Erikson J, Davis M, Rovera G -
In vitro human lymphocyte responses to Cryptococcus neoformans. Evidence for primary and secondary responses in normals and infected subjects.
Journal of immunology (Baltimore, Md. : 1950) 1984 Miller GP, Puck J -
Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen.
Journal of immunology (Baltimore, Md. : 1950) 1984 Puck JM, Rich RR -
Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections.
Transactions of the Association of American Physicians 1984 Lewis DE, Puck JM, Babcock GF, Rich RR -
Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2.
Cellular immunology 1983 Abramson SL, Brown MF, Puck JM, Rich RR -
Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants.
Cellular immunology 1982 Puck JM, Abramson SL, Rich RR -
Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates.
The Journal of experimental medicine 1981 Abramson SL, Puck JM, Rich RR -
Cerebral infarction associated with Mycoplasma pneumoniae.
Pediatrics 1981 Parker P, Puck J, Fernandez F -
Computerized tomography in brain biopsy-proven herpes simplex encephalitis. Early normal results.
Archives of neurology 1981 Greenberg SB, Taber L, Septimus E, Kohl S, Puck J, Bryan RN -
Protection of infants from infection with influenza A virus by transplacentally acquired antibody.
The Journal of infectious diseases 1980 Puck JM, Glezen WP, Frank AL, Six HR -
Microneutralization test for influenza A and B and parainfluenza 1 and 2 viruses that uses continuous cell lines and fresh serum enhancement.
Journal of clinical microbiology 1980 Frank AL, Puck J, Hughes BJ, Cate TR -
Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro.
The Journal of experimental medicine 1980 Rich RR, Abramson SL, Seldin MF, Puck JM, Levy R -
Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.
Journal of pediatric ophthalmology 1976 Nussbaum R, Puck J