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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. Among authors: ledeist f. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
Picard C, McCarl CA, Papolos A, Khalil S, Lüthy K, Hivroz C, LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A, Feske S. Picard C, et al. Among authors: ledeist f. N Engl J Med. 2009 May 7;360(19):1971-80. doi: 10.1056/NEJMoa0900082. N Engl J Med. 2009. PMID: 19420366 Free PMC article.
CD3 deficiencies.
Fischer A, de Saint Basile G, Le Deist F. Fischer A, et al. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):491-5. doi: 10.1097/01.all.0000191886.12645.79. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264327 Review.
ZAP70: a master regulator of adaptive immunity.
Fischer A, Picard C, Chemin K, Dogniaux S, le Deist F, Hivroz C. Fischer A, et al. Semin Immunopathol. 2010 Jun;32(2):107-16. doi: 10.1007/s00281-010-0196-x. Epub 2010 Feb 5. Semin Immunopathol. 2010. PMID: 20135127 Review.
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL. Courtois G, et al. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 Free PMC article.
113 results