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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: andre i. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
Lagresle-Peyrou C, Olichon A, Sadek H, Roche P, Tardy C, Da Silva C, Garrigue A, Fischer A, Moshous D, Collette Y, Picard C, Casanova JL, André I, Cavazzana M. Lagresle-Peyrou C, et al. Among authors: andre i. Haematologica. 2021 Feb 1;106(2):404-411. doi: 10.3324/haematol.2019.230250. Haematologica. 2021. PMID: 31919089 Free PMC article.
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.
Moreno-Corona N, Chentout L, Poggi L, Thouenon R, Masson C, Parisot M, Mouel LL, Picard C, André I, Cavazzana M, Perrin L, Durandy A, Azarnoush S, Kracker S. Moreno-Corona N, et al. Among authors: andre i. Front Pediatr. 2021 Jun 24;9:688022. doi: 10.3389/fped.2021.688022. eCollection 2021. Front Pediatr. 2021. PMID: 34249818 Free PMC article.
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon R, Chentout L, Moreno-Corona N, Poggi L, Lombardi EP, Hoareau B, Schmitt Y, Lagresle-Peyrou C, Bustamante J, André I, Cavazzana M, Durandy A, Casanova JL, Galicier L, Fadlallah J, Fischer A, Kracker S. Thouenon R, et al. Among authors: andre i. J Exp Med. 2023 Jun 5;220(6):e20221292. doi: 10.1084/jem.20221292. Epub 2023 Mar 14. J Exp Med. 2023. PMID: 36917008 Free PMC article.
A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome.
Delville M, Bellier F, Leon J, Klifa R, Lizot S, Vinçon H, Sobrino S, Thouenon R, Marchal A, Garrigue A, Olivré J, Charbonnier S, Lagresle-Peyrou C, Amendola M, Schambach A, Gross D, Lamarthée B, Benoist C, Zuber J, André I, Cavazzana M, Six E. Delville M, et al. Among authors: andre i. Blood. 2021 Apr 29;137(17):2326-2336. doi: 10.1182/blood.2020009187. Blood. 2021. PMID: 33545713 Free PMC article.
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Zemmour D, Charbonnier LM, Leon J, Six E, Keles S, Delville M, Benamar M, Baris S, Zuber J, Chen K, Neven B, Garcia-Lloret MI, Ruemmele FM, Brugnara C, Cerf-Bensussan N, Rieux-Laucat F, Cavazzana M, André I, Chatila TA, Mathis D, Benoist C. Zemmour D, et al. Among authors: andre i. Nat Immunol. 2021 May;22(5):607-619. doi: 10.1038/s41590-021-00910-8. Epub 2021 Apr 8. Nat Immunol. 2021. PMID: 33833438 Free PMC article.
Correction to: Ex vivo generated human T-lymphoid progenitors as a tool to accelerate immune reconstitution after partially HLA compatible hematopoietic stem cell transplantation or after gene therapy.
André I, Simons L, Ma K, Moirangthem RD, Diana JS, Magrin E, Couzin C, Magnani A, Lagresle-Peyrou C, Cavazzana M. André I, et al. Bone Marrow Transplant. 2022 May;57(5):851. doi: 10.1038/s41409-022-01629-2. Bone Marrow Transplant. 2022. PMID: 35297407 No abstract available.
175 results