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Year Number of Results
2010 1
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Page 1
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Bousfiha A, et al. J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6. J Clin Immunol. 2022. PMID: 36198931
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: bousfiha a. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24. J Clin Immunol. 2022. PMID: 35748970 Free PMC article.
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. Bousfiha A, et al. J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11. J Clin Immunol. 2020. PMID: 32048120 Free PMC article.
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. Bousfiha A, et al. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11. J Clin Immunol. 2018. PMID: 29226301 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: bousfiha a. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.
Moriya K, Nakano T, Honda Y, Tsumura M, Ogishi M, Sonoda M, Nishitani-Isa M, Uchida T, Hbibi M, Mizoguchi Y, Ishimura M, Izawa K, Asano T, Kakuta F, Abukawa D, Rinchai D, Zhang P, Kambe N, Bousfiha A, Yasumi T, Boisson B, Puel A, Casanova JL, Nishikomori R, Ohga S, Okada S, Sasahara Y, Kure S. Moriya K, et al. Among authors: bousfiha a. J Exp Med. 2023 Sep 4;220(9):e20212276. doi: 10.1084/jem.20212276. Epub 2023 Jun 5. J Exp Med. 2023. PMID: 37273177 Free PMC article.
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. Tangye SG, et al. Among authors: bousfiha a. J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17. J Clin Immunol. 2020. PMID: 31953710 Free PMC article.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A; COVID Human Genetic Effort; Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Béziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I. Bucciol G, et al. Among authors: bousfiha a. J Clin Invest. 2023 Jun 15;133(12):e168321. doi: 10.1172/JCI168321. J Clin Invest. 2023. PMID: 36976641 Free PMC article.
Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells.
Yang R, Avery DT, Jackson KJL, Ogishi M, Benhsaien I, Du L, Ye X, Han J, Rosain J, Peel JN, Alyanakian MA, Neven B, Winter S, Puel A, Boisson B, Payne KJ, Wong M, Russell AJ, Mizoguchi Y, Okada S, Uzel G, Goodnow CC, Latour S, El Bakkouri J, Bousfiha A, Preece K, Gray PE, Keller B, Warnatz K, Boisson-Dupuis S, Abel L, Pan-Hammarström Q, Bustamante J, Ma CS, Casanova JL, Tangye SG. Yang R, et al. Among authors: bousfiha a. Sci Immunol. 2022 Jul 22;7(73):eabq3277. doi: 10.1126/sciimmunol.abq3277. Epub 2022 Jul 22. Sci Immunol. 2022. PMID: 35867801 Free PMC article.
A partial form of inherited human USP18 deficiency underlies infection and inflammation.
Martin-Fernandez M, Buta S, Le Voyer T, Li Z, Dynesen LT, Vuillier F, Franklin L, Ailal F, Muglia Amancio A, Malle L, Gruber C, Benhsaien I, Altman J, Taft J, Deswarte C, Roynard M, Nieto-Patlan A, Moriya K, Rosain J, Boddaert N, Bousfiha A, Crow YJ, Jankovic D, Sher A, Casanova JL, Pellegrini S, Bustamante J, Bogunovic D. Martin-Fernandez M, et al. Among authors: bousfiha a. J Exp Med. 2022 Apr 4;219(4):e20211273. doi: 10.1084/jem.20211273. Epub 2022 Mar 8. J Exp Med. 2022. PMID: 35258551 Free PMC article.
45 results