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Page 1
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C. Sologuren I, et al. Among authors: feinberg j. Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029. Epub 2011 Jan 25. Hum Mol Genet. 2011. PMID: 21266457 Free PMC article.
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Kong XF, Vogt G, Chapgier A, Lamaze C, Bustamante J, Prando C, Fortin A, Puel A, Feinberg J, Zhang XX, Gonnord P, Pihkala-Saarinen UM, Arola M, Moilanen P, Abel L, Korppi M, Boisson-Dupuis S, Casanova JL. Kong XF, et al. Among authors: feinberg j. Hum Mol Genet. 2010 Feb 1;19(3):434-44. doi: 10.1093/hmg/ddp507. Epub 2009 Oct 31. Hum Mol Genet. 2010. PMID: 19880857 Free PMC article.
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL. Picard C, et al. Among authors: feinberg j. Am J Hum Genet. 2002 Feb;70(2):336-48. doi: 10.1086/338625. Epub 2001 Dec 17. Am J Hum Genet. 2002. PMID: 11753820 Free PMC article.
A partial form of recessive STAT1 deficiency in humans.
Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL. Chapgier A, et al. Among authors: feinberg j. J Clin Invest. 2009 Jun;119(6):1502-14. doi: 10.1172/JCI37083. Epub 2009 May 11. J Clin Invest. 2009. PMID: 19436109 Free PMC article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: feinberg j. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL. Prando C, et al. Among authors: feinberg j. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL. Bustamante J, et al. Among authors: feinberg j. J Med Genet. 2007 Feb;44(2):e65. doi: 10.1136/jmg.2006.043406. J Med Genet. 2007. PMID: 17293536 Free PMC article.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL. Prando C, et al. Among authors: feinberg j. Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291. Am J Med Genet A. 2010. PMID: 20186794 Free PMC article. Review.
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