Anthony Shum, MD
Professor
Medicine
School of Medicine

The goal of my research program to understand the basic mechanisms that control how the lung functions both as an important immune target in autoimmune disorders and as a critical factor in precipitating or propagating autoimmune inflammation.

My lab enrolls patients into our research program to perform next generation sequencing studies that are designed to uncover novel insights into the molecular pathogenesis of disease. We have developed a whole exome sequencing (WES) analysis pipeline to identify rare genetic variants that cosegregate with disease in Mendelian disorders of autoimmunity. Much of our work involves the study of immune mechanisms in animal models or cellular and molecular investigations that are designed to functionally validate candidate mutations discovered in our sequencing pipeline.

Do you have a patient you think might have the COPA syndrome? We are enrolling COPA syndrome patients and other families with autoimmune/lung disease for our studies. Please contact: anthony.shum@ucsf.edu

• PhIP-Seq uncovers novel autoantibodies and unique endotypes in interstitial lung disease.
  bioRxiv : the preprint server for biology 2023 Upadhyay V, Yoon YM, Vazquez SE, Velez TE, Jones KD, Lee CT, Law CS, Wolters PJ, Lee S, Yang MM, Farrand E, Noth I, Strek ME, Anderson M, DeRisi J, Sperling AI, Shum AK
• Interstitial lung disease patients exhibit augmented germinal center responses in lung lymph nodes and increased serum reactivities to novel autoantigens.
  The Journal of Immunology 2022 Young me Yoon, Tania Velez, Vaibhav Upadhyay, Sara Vazquez, Cathryn T Lee, Kelly Blaine, Donna Decker, Robert Guzy, Ayodeji Adegunsoye, Mary Strek, Imre Noth, Mark S Anderson, Joseph DeRisi, Anthony …
• COPA Syndrome (Ala239Pro) Presenting with Isolated Follicular Bronchiolitis in Early Childhood: Case Report.
  Journal of clinical immunology 2021 Psarianos P, Kwan JYY, Dell S, Wee WB, Rey-McIntyre K, Chen H, Dissanayake D, Laxer RM, Shum A, Liu FF, Yip KW
• Homeostatic regulation of STING by retrograde membrane traffic to the ER.
  The FASEB Journal 2021 Kojiro Mukai, Anthony Shum, Tomohiko Taguchi
• Homeostatic regulation of STING by retrograde membrane traffic to the ER.
  Nature communications 2021 Mukai K, Ogawa E, Uematsu R, Kuchitsu Y, Kiku F, Uemura T, Waguri S, Suzuki T, Dohmae N, Arai H, Shum AK, Taguchi T
• A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome.
  The Journal of experimental medicine 2020 Deng Z, Chong Z, Law CS, Mukai K, Ho FO, Martinu T, Backes BJ, Eckalbar WL, Taguchi T, Shum AK
• A Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome.
  Journal of immunology (Baltimore, Md. : 1950) 2020 Deng Z, Law CS, Ho FO, Wang KM, Jones KD, Shin JS, Shum AK
• Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
  Nature 2019 Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, …
• Analysis of pulmonary features and treatment approaches in the COPA syndrome.
  ERJ open research 2018 Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, Jones KD, Dell SD, Gudmundsson G, Hansdottir S, Helfgott SM, Volpi S, Gattorno M, Waterfield MR, Chan AY, Chung SA, Ley B, Shum AK
• Type I interferon pathway activation in COPA syndrome.
  Clinical immunology (Orlando, Fla.) 2017 Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P
• Rare variants, autoimmune disease, and arthritis.
  Current opinion in rheumatology 2016 Chung SA, Shum AK
• T cell types that take your breath away.
  Science translational medicine 2015 Shum AK
• Survival in interstitial pneumonia with features of autoimmune disease: a comparison of proposed criteria.
  Respiratory medicine 2015 Assayag D, Kim EJ, Elicker BM, Jones KD, Golden JA, King TE, Koth LL, Shum AK, Wolters PJ, Collard HR, Lee JS
• The effect of bronchodilators on forced vital capacity measurement in patients with idiopathic pulmonary fibrosis.
  Respiratory medicine 2015 Assayag D, Vittinghoff E, Ryerson CJ, Cocconcelli E, Tonelli R, Hu X, Elicker BM, Golden JA, Jones KD, King TE, Koth LL, Lee JS, Ley B, Shum AK, Wolters PJ, Ryu JH, Collard HR
• Transglutaminase 4 as a prostate autoantigen in male subfertility.
  Science translational medicine 2015 Landegren N, Sharon D, Shum AK, Khan IS, Fasano KJ, Hallgren Å, Kampf C, Freyhult E, Ardesjö-Lundgren B, Alimohammadi M, Rathsman S, Ludvigsson JF, Lundh D, Motrich R, Rivero V, Fong L, Giwercman A, …
• COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
  Nature genetics 2015 Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas …
• Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus.
  The Journal of clinical investigation 2013 Price JV, Haddon DJ, Kemmer D, Delepine G, Mandelbaum G, Jarrell JA, Gupta R, Balboni I, Chakravarty EF, Sokolove J, Shum AK, Anderson MS, Cheng MH, Robinson WH, Browne SK, Holland SM, Baechler EC, …
• BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.
  Science translational medicine 2013 Shum AK, Alimohammadi M, Tan CL, Cheng MH, Metzger TC, Law CS, Lwin W, Perheentupa J, Bour-Jordan H, Carel JC, Husebye ES, De Luca F, Janson C, Sargur R, Dubois N, Kajosaari M, Wolters PJ, Chapman HA,…
• Prevalence and clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis.
  Respiratory medicine 2012 Lee JS, Kim EJ, Lynch KL, Elicker B, Ryerson CJ, Katsumoto TR, Shum AK, Wolters PJ, Cerri S, Richeldi L, Jones KD, King TE, Collard HR
• Protein microarray analysis of serum factor-reactive autoantibodies reveals BAFF-binding autoantibodies in systemic lupus erythematosus (58.22).
  The Journal of Immunology 2012 Jordan Price, Dodge Kemmer, Imelda Balboni, David Haddon, Gil Mandelbaum, Guillaume Delepine, Jeremy Sokolove, Anthony Shum, Sarah Browne, Paul Utz
• Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.
  Journal of immunology (Baltimore, Md. : 1950) 2012 Su MA, Davini D, Cheng P, Giang K, Fan U, DeVoss JJ, Johannes KP, Taylor L, Shum AK, Valenzise M, Meloni A, Bour-Jordan H, Anderson MS
• IgM Antibodies to the Rescue!.
  Science Translational Medicine 2012 Anthony K. Shum
• Smoking Out a New Therapy for Lung Disease.
  Science Translational Medicine 2012 Anthony K. Shum
• A New Twist in a Fibrous Condition.
  Science Translational Medicine 2011 Anthony K. Shum
• A Joint Venture Between Complement and Chondrocytes.
  Science Translational Medicine 2011 Anthony K. Shum
• Refreshing Your Memory.
  Science Translational Medicine 2011 Anthony K. Shum
• Digesting the Unexpected Side Effects of Chronic Antibiotic Use.
  Science Translational Medicine 2011 Anthony K. Shum
• A Gut Check for Asthma.
  Science Translational Medicine 2011 Anthony K. Shum
• The "Eyes" Have It.
  Science Translational Medicine 2011 Anthony K. Shum
• A Mimic for Lupus Treatment.
  Science Translational Medicine 2011 Anthony K. Shum
• Pearls of Wisdom for Pulmonary Fibrosis.
  Science Translational Medicine 2011 Anthony K. Shum
• OutFOXing Tolerance in Multiple Sclerosis.
  Science Translational Medicine 2011 Anthony K. Shum
• A Little Tolerance Can Prevent a Broken Heart.
  Science Translational Medicine 2011 Anthony K. Shum
• Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance.
  Science translational medicine 2009 Shum AK, DeVoss J, Tan CL, Hou Y, Johannes K, O'Gorman CS, Jones KD, Sochett EB, Fong L, Anderson MS
• Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.
  Journal of immunology (Baltimore, Md. : 1950) 2008 Devoss JJ, Shum AK, Johannes KP, Lu W, Krawisz AK, Wang P, Yang T, Leclair NP, Austin C, Strauss EC, Anderson MS
• A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.
  Clinical immunology (Orlando, Fla.) 2007 Zhang L, Barker JM, Babu S, Su M, Stenerson M, Cheng M, Shum A, Zamir E, Badolato R, Law A, Eisenbarth GS, Anderson MS
• What's new in the Aire?
  Trends in immunology 2007 Cheng MH, Shum AK, Anderson MS
• A 36-year-old man with AIDS and relapsing, nonproductive cough.
  Chest 2007 Davis JL, Shum AK, Huang L
• Aire Deficient Mice—A Model for Autoimmune Lung Disease.
  Clinical Immunology 2007 Anthony Shum, Jason DeVoss, Mark Anderson
• A surgical method for selecting appropriate size of graft in aortic root remodeling.
  The Annals of thoracic surgery 1999 Choo SJ, Duran CM
• Selective expansion of Vgamma2-Vdelta7 TCR gammadelta cells in C57BL/6 mice is postnatal and extrathymic.
  Journal of immunology (Baltimore, Md. : 1950) 1997 Sperling AI, Decker DC, DiPaolo RJ, Stern DA, Shum A, Bluestone JA