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Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, Sabelli C, Bacchetta R, Passerini L, Magri C, Bell CJ, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Barlati S, Badolato R. Dinwiddie DL, et al. J Allergy Clin Immunol. 2013 Feb;131(2):594-7.e1-3. doi: 10.1016/j.jaci.2012.10.062. J Allergy Clin Immunol. 2013. PMID: 23374272 Free PMC article. No abstract available.
Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability.
Passerini L, Olek S, Di Nunzio S, Barzaghi F, Hambleton S, Abinun M, Tommasini A, Vignola S, Cipolli M, Amendola M, Naldini L, Guidi L, Cecconi M, Roncarolo MG, Bacchetta R. Passerini L, et al. J Allergy Clin Immunol. 2011 Dec;128(6):1376-1379.e1. doi: 10.1016/j.jaci.2011.09.010. Epub 2011 Oct 13. J Allergy Clin Immunol. 2011. PMID: 22000569 No abstract available.
Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.
Di Nunzio S, Cecconi M, Passerini L, McMurchy AN, Baron U, Turbachova I, Vignola S, Valencic E, Tommasini A, Junker A, Cazzola G, Olek S, Levings MK, Perroni L, Roncarolo MG, Bacchetta R. Di Nunzio S, et al. Blood. 2009 Nov 5;114(19):4138-41. doi: 10.1182/blood-2009-04-214593. Epub 2009 Sep 8. Blood. 2009. PMID: 19738030 Free article.