Anthony Shum, MD

Professor, Medicine

Research Interests:

Autoimmunity, cGAS-STING signaling, inborn errors of immunity, ILD

Research Summary:
The Shum lab is interested in understanding the immune mechanisms that lead to lung inflammation and fibrosis in patients with autoimmune disorders. Through human and mouse studies, we seek to define the critical factors that lead to autoimmune lung disease in order to speed the development of diagnostic tests and treatments for patients.

Address:

555 Mission Bay Blvd South, Rm 252H

UCSF Box 3118

San Francisco, CA 94158

United States

Email:

anthony.shum@ucsf.edu

Websites:

http://shumlab.ucsf.edu/(link is external)

Faculty Type:

Core CVRI Faculty

Publications:

The common HAQ STING allele prevents clinical penetrance of COPA syndrome.(link is external)

The Journal of experimental medicine

Simchoni N, Koide S, Likhite M, Kuchitsu Y, Kadirvel S, Law CS, Elicker BM, Kurra S, Wong MM, Yuan B, Grossi A, Laxer RM, Volpi S, Dissanayake D, Taguchi T, Beck DB, Vogel TP, Shum AK

Phage Immunoprecipitation-Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease.(link is external)

ACR open rheumatology

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 MS, DeRisi JL, Sperling AI, Shum AK

Twenty-year-old patient with polyarthritis since childhood showing cysts and ground glass attenuation on HRCT.(link is external)

Thorax

Fagundes MDC, Bianco T, Nunes DP, Ostroski TKD, Bridi GDP, Kawassaki AM, Barbas CSV, Mendonça LO, Barros SF, Kalil J, Shum AK, Escuissato DL

Activated STING in the thymus alters T cell development and selection leading to autoimmunity.(link is external)

bioRxiv : the preprint server for biology

Deng Z, Law CS, Kurra S, Simchoni N, Shum AK

Pathogenic COPA mutations decrease binding of dilysine motifs through allosteric effects.

Biophysical Journal

Anna Pavlova, Sasthi C. Mandal, Noa Simchoni, Christopher S. Law, Atanu Acharya, Anthony K. Shum, James C. Gumbart

COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.(link is external)

Rheumatic diseases clinics of North America

Simchoni N, Vogel TP, Shum AK

Antigenic responses are hallmarks of fibrotic interstitial lung diseases independent of underlying etiologies.(link is external)

medRxiv : the preprint server for health sciences

Yoon YM, Velez TE, Upadhyay V, Vazquez SE, Lee CT, Selvan KC, Law CS, Blaine KM, Hollinger MK, Decker DC, Clark MR, Strek ME, Guzy RD, Adegunsoye A, Noth I, Wolters PJ, Anderson M, DeRisi JL, Shum AK, Sperling AI

PhIP-Seq uncovers novel autoantibodies and unique endotypes in interstitial lung disease.(link is external)

bioRxiv : the preprint server for biology

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

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 Shum, Anne I Sperling

COPA Syndrome (Ala239Pro) Presenting with Isolated Follicular Bronchiolitis in Early Childhood: Case Report.(link is external)

Journal of clinical immunology

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

Kojiro Mukai, Anthony Shum, Tomohiko Taguchi

Homeostatic regulation of STING by retrograde membrane traffic to the ER.(link is external)

Nature communications

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.(link is external)

The Journal of experimental medicine

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.(link is external)

Journal of immunology (Baltimore, Md. : 1950)

Deng Z, Law CS, Ho FO, Wang KM, Jones KD, Shin JS, Shum AK

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.(link is external)

Nature

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, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J

Analysis of pulmonary features and treatment approaches in the COPA syndrome.(link is external)

ERJ open research

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.(link is external)

Clinical immunology (Orlando, Fla.)

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.(link is external)

Current opinion in rheumatology

Chung SA, Shum AK

T cell types that take your breath away.(link is external)

Science translational medicine

Shum AK

Survival in interstitial pneumonia with features of autoimmune disease: a comparison of proposed criteria.(link is external)

Respiratory medicine

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.(link is external)

Respiratory medicine

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.(link is external)

Science translational medicine

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, Gustafsson J, Perheentupa J, Husebye ES, Anderson MS, Snyder M, Kämpe O

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.(link is external)

Nature genetics

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 SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK

Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus.(link is external)

The Journal of clinical investigation

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, Utz PJ

BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.(link is external)

Science translational medicine

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, Kämpe O, Anderson MS