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Page 1
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. Puel A, et al. Among authors: durandy a. Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15. Am J Hum Genet. 2006. PMID: 16532398 Free PMC article.
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Döffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL. Altare F, et al. Among authors: durandy a. Science. 1998 May 29;280(5368):1432-5. doi: 10.1126/science.280.5368.1432. Science. 1998. PMID: 9603732
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
Altare F, Lammas D, Revy P, Jouanguy E, Döffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS. Altare F, et al. Among authors: durandy a. J Clin Invest. 1998 Dec 15;102(12):2035-40. doi: 10.1172/JCI4950. J Clin Invest. 1998. PMID: 9854038 Free PMC article.
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL. Döffinger R, et al. Among authors: durandy a. Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837. Nat Genet. 2001. PMID: 11242109
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Quartier P, Bustamante J, Sanal O, Plebani A, Debré M, Deville A, Litzman J, Levy J, Fermand JP, Lane P, Horneff G, Aksu G, Yalçin I, Davies G, Tezcan I, Ersoy F, Catalan N, Imai K, Fischer A, Durandy A. Quartier P, et al. Among authors: durandy a. Clin Immunol. 2004 Jan;110(1):22-9. doi: 10.1016/j.clim.2003.10.007. Clin Immunol. 2004. PMID: 14962793
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: durandy 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.
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL. Pérez de Diego R, et al. Among authors: durandy a. Immunity. 2010 Sep 24;33(3):400-11. doi: 10.1016/j.immuni.2010.08.014. Epub 2010 Sep 9. Immunity. 2010. PMID: 20832341 Free PMC article.
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon R, Chentout L, Moreno-Corona N, Poggi L, Lombardi EP, Hoareau B, Schmitt Y, Lagresle-Peyrou C, Bustamante J, André I, Cavazzana M, Durandy A, Casanova JL, Galicier L, Fadlallah J, Fischer A, Kracker S. Thouenon R, et al. Among authors: durandy a. J Exp Med. 2023 Jun 5;220(6):e20221292. doi: 10.1084/jem.20221292. Epub 2023 Mar 14. J Exp Med. 2023. PMID: 36917008 Free PMC article.
241 results