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Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL. Wang Y, et al. J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19. J Exp Med. 2016. PMID: 27647349 Free PMC article.
Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.
Feinberg J, Fieschi C, Doffinger R, Feinberg M, Leclerc T, Boisson-Dupuis S, Picard C, Bustamante J, Chapgier A, Filipe-Santos O, Ku CL, de Beaucoudrey L, Reichenbach J, Antoni G, Baldé R, Alcaïs A, Casanova JL. Feinberg J, et al. Eur J Immunol. 2004 Nov;34(11):3276-84. doi: 10.1002/eji.200425221. Eur J Immunol. 2004. PMID: 15384045 Free article.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
[Gains of glycosylation mutations].
Vogt G, Chapgier A, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcaïs A, Abel L, Cooper DN, Casanova JL. Vogt G, et al. Med Sci (Paris). 2006 May;22(5):480-2. doi: 10.1051/medsci/2006225480. Med Sci (Paris). 2006. PMID: 16687113 Free article. French. No abstract available.
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL. Chapgier A, et al. PLoS Genet. 2006 Aug 18;2(8):e131. doi: 10.1371/journal.pgen.0020131. PLoS Genet. 2006. PMID: 16934001 Free PMC article.
Human primary immunodeficiencies of type I interferons.
Jouanguy E, Zhang SY, Chapgier A, Sancho-Shimizu V, Puel A, Picard C, Boisson-Dupuis S, Abel L, Casanova JL. Jouanguy E, et al. Biochimie. 2007 Jun-Jul;89(6-7):878-83. doi: 10.1016/j.biochi.2007.04.016. Epub 2007 May 8. Biochimie. 2007. PMID: 17561326 Review.
164 results