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Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals.
Peel JN, Yang R, Le Voyer T, Gervais A, Rosain J, Bastard P, Behere A, Cederholm A, Bodansky A, Seeleuthner Y, Conil C, Ding JY, Lei WT, Bizien L, Soudee C, Migaud M, Ogishi M, Yatim A, Lee D, Bohlen J, Perpoint T, Perez L, Messina F, Genet R, Karkowski L, Blot M, Lafont E, Toullec L, Goulvestre C, Mehlal-Sedkaoui S, Sallette J, Martin F, Puel A, Jouanguy E; CONSTANCES cohort; 3C-Dijon Study; Etablissement du Sang study group; Anderson MS, Landegren N, Tiberghien P, Abel L, Boisson-Dupuis S, Bustamante J, Ku CL, Casanova JL. Peel JN, et al. Among authors: puel a. J Clin Invest. 2024 Mar 12;134(8):e178263. doi: 10.1172/JCI178263. J Clin Invest. 2024. PMID: 38470480 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: puel a. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 Free PMC article.
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL. Picard C, et al. Among authors: puel a. Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. Curr Opin Allergy Clin Immunol. 2003. PMID: 14612669 Review.
Autosomal-dominant primary immunodeficiencies.
Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Lawrence T, et al. Among authors: puel a. Curr Opin Hematol. 2005 Jan;12(1):22-30. doi: 10.1097/01.moh.0000149609.37309.0a. Curr Opin Hematol. 2005. PMID: 15604887 Review.
Heritable defects of the human TLR signalling pathways.
Puel A, Yang K, Ku CL, von Bernuth H, Bustamante J, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL. Puel A, et al. J Endotoxin Res. 2005;11(4):220-4. doi: 10.1179/096805105X37367. J Endotoxin Res. 2005. PMID: 16176658 Review.
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses.
Yang K, Puel A, Zhang S, Eidenschenk C, Ku CL, Casrouge A, Picard C, von Bernuth H, Senechal B, Plancoulaine S, Al-Hajjar S, Al-Ghonaium A, Maródi L, Davidson D, Speert D, Roifman C, Garty BZ, Ozinsky A, Barrat FJ, Coffman RL, Miller RL, Li X, Lebon P, Rodriguez-Gallego C, Chapel H, Geissmann F, Jouanguy E, Casanova JL. Yang K, et al. Among authors: puel a. Immunity. 2005 Nov;23(5):465-78. doi: 10.1016/j.immuni.2005.09.016. Immunity. 2005. PMID: 16286015 Free PMC article.
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL. Filipe-Santos O, et al. Among authors: puel a. J Exp Med. 2006 Jul 10;203(7):1745-59. doi: 10.1084/jem.20060085. Epub 2006 Jul 3. J Exp Med. 2006. PMID: 16818673 Free PMC article.
294 results