Anthony Shum, MD

Anthony Shum
Professor In Residence
M_MED-CORE-PULM

I run a laboratory-based basic-translational research program that lies at the intersection of autoimmunity and pulmonary disease. My work is focused on the study of clinical disorders such as rheumatoid arthritis that have important disease manifestations in the lung. 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: [email protected]

Publications

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.

bioRxiv : the preprint server for biology

Panteloglou G, Robert J, Smit M, Huijkman N, Kloosterhuis N, Law CS, Woods B, Othman A, Kleber ME, Delgado GE, Tarugi P, Lone MA, Wolters JC, Rimbert A, Kerksiek A, Lütjohann D, Rohrer L, Zanoni P, Kakava S, Häusler S, Schlumpf E, Futema M, Humphries SE, Chou J, März W, Geha RS, Shum AK, Kuivenhoven JA, van de Sluis B, von Eckardstein A

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

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

Transglutaminase 4 as a prostate autoantigen in male subfertility.

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.

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