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A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP. Mousallem T, et al. Among authors: buckley rh. Blood. 2014 Sep 25;124(13):2046-50. doi: 10.1182/blood-2014-04-571265. Epub 2014 Aug 18. Blood. 2014. PMID: 25139357 Free PMC article.
Jak3 and the pathogenesis of severe combined immunodeficiency.
O'Shea JJ, Husa M, Li D, Hofmann SR, Watford W, Roberts JL, Buckley RH, Changelian P, Candotti F. O'Shea JJ, et al. Among authors: buckley rh. Mol Immunol. 2004 Jul;41(6-7):727-37. doi: 10.1016/j.molimm.2004.04.014. Mol Immunol. 2004. PMID: 15220007 Review.
T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.
Roberts JL, Lauritsen JP, Cooney M, Parrott RE, Sajaroff EO, Win CM, Keller MD, Carpenter JH, Carabana J, Krangel MS, Sarzotti M, Zhong XP, Wiest DL, Buckley RH. Roberts JL, et al. Among authors: buckley rh. Blood. 2007 Apr 15;109(8):3198-206. doi: 10.1182/blood-2006-08-043166. Epub 2006 Dec 14. Blood. 2007. PMID: 17170122 Free PMC article.
249 results