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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: su hc. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. Science. 2015. PMID: 26206937
Genetic defects of apoptosis and primary immunodeficiency.
Su HC, Lenardo MJ. Su HC, et al. Immunol Allergy Clin North Am. 2008 May;28(2):329-51, ix. doi: 10.1016/j.iac.2008.01.002. Immunol Allergy Clin North Am. 2008. PMID: 18424336 Free PMC article. Review.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, Cohen JI, Uzel G, Su HC, Lenardo MJ. Li FY, et al. Among authors: su hc. Nature. 2011 Jul 27;475(7357):471-6. doi: 10.1038/nature10246. Nature. 2011. PMID: 21796205 Free PMC article.
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC. Sanal O, et al. Among authors: su hc. J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4. J Clin Immunol. 2012. PMID: 22476911 Free PMC article.
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
Snow AL, Xiao W, Stinson JR, Lu W, Chaigne-Delalande B, Zheng L, Pittaluga S, Matthews HF, Schmitz R, Jhavar S, Kuchen S, Kardava L, Wang W, Lamborn IT, Jing H, Raffeld M, Moir S, Fleisher TA, Staudt LM, Su HC, Lenardo MJ. Snow AL, et al. Among authors: su hc. J Exp Med. 2012 Nov 19;209(12):2247-61. doi: 10.1084/jem.20120831. Epub 2012 Nov 5. J Exp Med. 2012. PMID: 23129749 Free PMC article.
396 results