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Page 1
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G. Kuehn HS, et al. Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11. Science. 2014. PMID: 25213377 Free PMC article.
CVID-associated TACI mutations affect autoreactive B cell selection and activation.
Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre E. Romberg N, et al. J Clin Invest. 2013 Oct;123(10):4283-93. doi: 10.1172/JCI69854. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051380 Free PMC article.
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.
Meyers G, Ng YS, Bannock JM, Lavoie A, Walter JE, Notarangelo LD, Kilic SS, Aksu G, Debré M, Rieux-Laucat F, Conley ME, Cunningham-Rundles C, Durandy A, Meffre E. Meyers G, et al. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11554-9. doi: 10.1073/pnas.1102600108. Epub 2011 Jun 23. Proc Natl Acad Sci U S A. 2011. PMID: 21700883 Free PMC article.
CD19 controls Toll-like receptor 9 responses in human B cells.
Morbach H, Schickel JN, Cunningham-Rundles C, Conley ME, Reisli I, Franco JL, Meffre E. Morbach H, et al. J Allergy Clin Immunol. 2016 Mar;137(3):889-98.e6. doi: 10.1016/j.jaci.2015.08.040. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478008 Free PMC article.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Ombrello MJ, et al. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11. N Engl J Med. 2012. PMID: 22236196 Free PMC article.
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