Simchoni N, Vogel TP, Shum AK. COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide. Rheumatic Disease Clinics of North America. 2023 July 21. DOI: 10.1016/j.rdc.2023.06.005

Deng Z*, Chong Z*, Law CS, Mukai K, Ho FO, Martinu T, Backes BJ, Eckalbar WL, Taguchi T, Shum AK. A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome. Journal of Experimental Medicine. 2020 Nov 2; 217(11): e20201045. PMID: 32725126. DOI: 10.1084/jem.20201045. *equal contribution

Mukai K, Ogawa E, Uematsu R, Kuchitsu Y, Kiku F, Uemura T, Waguri S, Suzuki T, Dohmae N, Arai H, Shum AK, Taguchi T. Homeostatic regulation of STING by retrograde membrane traffic to the ER. Nature Communications. 2021 Jan 4;12(1):61. PMID: 33397928. DOI: 10.1038/s41467-020-20234-9

Lalaoui N, Boyden S, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal K, Hoffmann PM, Etemdai 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 J, 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 S, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020 Jan; 577(7788): 103-108. PMID: 31827281. DOI: 10.1038/s41586-019-1828-5

Deng Z, Law CS, Ho FO, Wang KM, Jones KD, Shin JS, Shum AK. A defect in thymic tolerance causes T cell-mediated autoimmunity in a murine model of COPA syndrome. The Journal of Immunology. 2020 Mar 20; pii: ji2000028. PMID: 32198142. DOI: 10.4049/jimmunol.2000028

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. Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Research. 2018 4: 00017-2018. PMID: 29977900. DOI: 10.1183/23120541.00017-2018

Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P. Type I interferon pathway activation in Copa syndrome. Clinical Immunology. 2017 Oct 10; pii: S1521-6616(17)30688-5. PMID: 29030294. DOI: 10.1016/j.clim.2017.10.001

Chung SA, Shum AK. Rare variants, autoimmune disease, and arthritis. Current Opinion in Rheumatology. 2016 July; 28(4):346-351. PMID: 27224741. DOI: 10.1097/BOR.0000000000000298

Shum AK. T cell types that take your breath away. Science Translational Medicine. 2015 Aug 19; 7(301):301fs33. PMID: 26290409. DOI: 10.1126/scitranslmed.aac9737

Landegren N, Sharon D, Shum AK, Khan IS, Fasano KJ, Hallgren A, Kampf C, Freyhult E, Ardesjo-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, and Kampe O. Transglutaminase 4 as a prostate autoantigen in male subfertility. Science Translational Medicine. 2015 June 17; 7(292): 292ra101. PMID: 26084804. DOI: 10.1126/scitranslmed.aaa9186

Watkin LB*, Jessen B*, Wiszniewski W*, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RLP, Lee K, Gambin T, Forbes LR, Law CS, Stray-Petersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok P, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Papa FF, 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*, and Shum AK*. COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics. 2015 Apr 20; 47(6):654-60. PMID: 25894502. DOI: 10.1038/ng.3279. *equal contribution

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. BPIFB1 Is a Lung-Specific Autoantigen Associated with Interstitial Lung Disease. Science Translational Medicine. 2013 Oct 9; 5(206):206ra139. PMID: 24107778. DOI: 10.1126/scitranslmed.3006998

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. Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus. Journal of Clinical Investigation. 2013 Dec 2; 123(12):5135-45. PMID: 24270423. DOI: 10.1172/jci70231

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. Prevalence and clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis. Respiratory Medicine. 2013 Feb; 107(2):249-55. PMID: 23186614. DOI: 10.1016/j.rmed.2012.10.018

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. Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy. Journal of Immunology. 2012 May 15; 188(10):4906-12. PMID: 22490868. DOI: 10.4049/jimmunol.1200493

Shum AK, DeVoss J, Tan CL, Hou Y, Johannes K, O'Gorman CS, Jones KD, Sochett EB, Fong L, Anderson MS. Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance. Science Translational Medicine. 2009 Dec 2; 1(9):9ra20. PMID: 20368189. DOI: 10.1126/scitranslmed.3000284

Devoss JJ, Shum AK, Johannes KP, Lu W, Krawisz AK, Wang P, Yang T, Leclair NP, Austin C, Strauss EC, Anderson MS. Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. Journal of Immunology. 2008 Sep 15; 181(6):4072-9. PMID: 18768863. DOI: 10.4049/jimmunol.181.6.4072

Zhang L, Barker JM, Babu S, Su M, Stenerson M, Cheng M, Shum AK, Zamir E, Badolato R, Law A, Eisenbarth GS, Anderson MS. A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clinical Immunology. 2007 Nov; 125(2):131-7. PMID: 17825626. DOI: 10.1016/j.clim.2007.07.015

Cheng MH, Shum AK, Anderson MS. What's new in the Aire? Trends in Immunology. 2007 Jul; 28(7):321-7. PMID: 17556019. DOI: 10.1016/j.it.2007.05.004

Davis JL, Shum AK, Huang L. A 36-year-old man with AIDS and relapsing, nonproductive cough. Chest. 2007 Jun; 131(6):1929-31. PMID: 17565026. DOI: 10.1378/chest.06-1923

Zhang J, Helmke BP, Shum AK, Du K, Yu WW, Lu MM, Davies PF, Parmacek MS. SM22 encodes a lineage-restricted cytoskeletal protein with a unique developmentally regulated pattern of expression. Mechanisms of Development. 2002; 115: 161-166. PMID: 12049783. DOI: 10.1016/s0925-4773(02)00088-6

Sperling AI, Decker DC, DiPaolo RJ, Stern DA, Shum AK, Bluestone JA. Selective expansion of Vγ2-Vδ7 TCR γδ cells in C57BL/6 mice is postnatal and extrathymic. Journal of Immunology. 1997; 159: 86-91. PMID: 9200442

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