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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: fleisher ta. 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.
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
Oliveira JB, Bidère N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ. Oliveira JB, et al. Among authors: fleisher ta. Proc Natl Acad Sci U S A. 2007 May 22;104(21):8953-8. doi: 10.1073/pnas.0702975104. Epub 2007 May 16. Proc Natl Acad Sci U S A. 2007. PMID: 17517660 Free PMC article.
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, Linton GF, Anderson SM, Kirby MR, Oliveira JB, Brown MR, Fleisher TA, Law SK, Holland SM. Uzel G, et al. Among authors: fleisher ta. Blood. 2008 Jan 1;111(1):209-18. doi: 10.1182/blood-2007-04-082552. Epub 2007 Sep 17. Blood. 2008. PMID: 17875809 Free PMC article.
Mutation analysis in primary immunodeficiency diseases: case studies.
Hsu AP, Fleisher TA, Niemela JE. Hsu AP, et al. Among authors: fleisher ta. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):517-24. doi: 10.1097/ACI.0b013e3283328f59. Curr Opin Allergy Clin Immunol. 2009. PMID: 19841577 Free PMC article. Review.
232 results