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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F. de Villartay JP, et al. Among authors: le deist f. J Clin Invest. 2005 Nov;115(11):3291-9. doi: 10.1172/JCI25178. J Clin Invest. 2005. PMID: 16276422 Free PMC article.
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. Among authors: le deist f. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 Free PMC article.
Artemis sheds new light on V(D)J recombination.
Le Deist F, Poinsignon C, Moshous D, Fischer A, de Villartay JP. Le Deist F, et al. Immunol Rev. 2004 Aug;200:142-55. doi: 10.1111/j.0105-2896.2004.00169.x. Immunol Rev. 2004. PMID: 15242402 Review.
CD3 deficiencies.
Fischer A, de Saint Basile G, Le Deist F. Fischer A, et al. Among authors: le deist f. 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.
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. Bernard F, et al. Among authors: le deist f. Pediatrics. 2004 Jan;113(1 Pt 1):136-41. doi: 10.1542/peds.113.1.136. Pediatrics. 2004. PMID: 14702466
288 results