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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. Lo B, et al. Among authors: zhang q, zhang k, zhang y. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. Science. 2015. PMID: 26206937
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD. Boutboul D, et al. Among authors: zhang k. J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11. J Clin Invest. 2018. PMID: 29889099 Free PMC article.
Adolescent presentation of x-linked lymphoproliferative disease.
Friedlander SL, Dooms KT, Seroogy CM, Voss CY, Agger WA, Zhang K, Bleesing J, Filipovich AH. Friedlander SL, et al. Among authors: zhang k. Ann Allergy Asthma Immunol. 2008 Apr;100(4):398-400. doi: 10.1016/S1081-1206(10)60608-4. Ann Allergy Asthma Immunol. 2008. PMID: 18450131 No abstract available.
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