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Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, Le Deist F, Eliaou JF, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: fondaneche mc. Immunogenetics. 2003 Feb;54(11):747-55. doi: 10.1007/s00251-002-0521-1. Epub 2003 Jan 16. Immunogenetics. 2003. PMID: 12618906
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: fondaneche mc. Immunogenetics. 2000 Apr;51(4-5):261-7. doi: 10.1007/s002510050619. Immunogenetics. 2000. PMID: 10803838
Mutation in the class II trans-activator leading to a mild immunodeficiency.
Wiszniewski W, Fondaneche MC, Le Deist F, Kanariou M, Selz F, Brousse N, Steimle V, Barbieri G, Alcaide-Loridan C, Charron D, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: fondaneche mc. J Immunol. 2001 Aug 1;167(3):1787-94. doi: 10.4049/jimmunol.167.3.1787. J Immunol. 2001. PMID: 11466404
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. Jouanguy E, et al. Among authors: fondaneche mc. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701. Nat Genet. 1999. PMID: 10192386
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Among authors: fondaneche mc. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
31 results