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114 results

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Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: alcais a. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
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. Among authors: alcais a. 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. Among authors: alcais a. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, Mahlaoui N, Gineau L, Alcaïs A, Lamaze C, Puck JM, de Saint Basile G, Khayat CD, Mikhael R, Casanova JL. Vogt G, et al. Among authors: alcais a. J Exp Med. 2008 Aug 4;205(8):1729-37. doi: 10.1084/jem.20071987. Epub 2008 Jul 14. J Exp Med. 2008. PMID: 18625743 Free PMC article.
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium; Alcais A, Boisson B, Casanova JL, Abel L. Belkadi A, et al. Among authors: alcais a. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247391 Free PMC article. Clinical Trial.
Prevalence of primary immunodeficiencies in France is underestimated.
Mahlaoui N, Jais JP, Brosselin P, Mignot C, Beaurain B, Brito C, Costes L, Courteille V, De Vergnes N, Alcaïs A, Fischer A; CEREDIH Prevalence Study Collaborators. Mahlaoui N, et al. Among authors: alcais a. J Allergy Clin Immunol. 2017 Dec;140(6):1731-1733. doi: 10.1016/j.jaci.2017.06.020. Epub 2017 Jul 18. J Allergy Clin Immunol. 2017. PMID: 28732644 No abstract available.
Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.
Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group. Mahlaoui N, et al. Among authors: alcais a. J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. J Allergy Clin Immunol. 2019. PMID: 30639347 No abstract available.
114 results