Fondanèche MC - Search Results

1

Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap.

Al-Alem U, Li C, Forey N, Relouzat F, Fondanèche MC, Tavtigian SV, Wang ZQ, Latour S, Yin L. Al-Alem U, et al. Among authors: fondaneche mc. Blood. 2005 Sep 15;106(6):2069-75. doi: 10.1182/blood-2004-07-2731. Epub 2005 Jun 7. Blood. 2005. PMID: 15941917 Free article.

2

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn.

Bloch-Queyrat C, Fondanèche MC, Chen R, Yin L, Relouzat F, Veillette A, Fischer A, Latour S. Bloch-Queyrat C, et al. Among authors: fondaneche mc. J Exp Med. 2005 Jul 4;202(1):181-92. doi: 10.1084/jem.20050449. J Exp Med. 2005. PMID: 15998796 Free PMC article.

3

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.

Pasquier B, Yin L, Fondanèche MC, Relouzat F, Bloch-Queyrat C, Lambert N, Fischer A, de Saint-Basile G, Latour S. Pasquier B, et al. Among authors: fondaneche mc. J Exp Med. 2005 Mar 7;201(5):695-701. doi: 10.1084/jem.20042432. Epub 2005 Feb 28. J Exp Med. 2005. PMID: 15738056 Free PMC article.

4

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

5

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.

Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B. Dziembowska M, et al. Among authors: fondaneche mc. Immunogenetics. 2002 Feb;53(10-11):821-9. doi: 10.1007/s00251-001-0395-7. Epub 2002 Jan 29. Immunogenetics. 2002. PMID: 11862382

6

Two complementation groups account for most cases of inherited MHC class II deficiency.

Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A. Lisowska-Grospierre B, et al. Among authors: fondaneche mc. Hum Mol Genet. 1994 Jun;3(6):953-8. doi: 10.1093/hmg/3.6.953. Hum Mol Genet. 1994. PMID: 7951244

7

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

Buck D, Malivert L, de Chasseval R, Barraud A, Fondanèche MC, Sanal O, Plebani A, Stéphan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P. Buck D, et al. Among authors: fondaneche mc. Cell. 2006 Jan 27;124(2):287-99. doi: 10.1016/j.cell.2005.12.030. Cell. 2006. PMID: 16439204 Free article.

8

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

9

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL. Jouanguy E, et al. Among authors: fondaneche mc. J Clin Invest. 1997 Dec 1;100(11):2658-64. doi: 10.1172/JCI119810. J Clin Invest. 1997. PMID: 9389728 Free PMC article.

10

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

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