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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. Among authors: tangye sg. 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. 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.
These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and i …
These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of mole …
Inborn errors of human B cell development, differentiation, and function.
Tangye SG, Nguyen T, Deenick EK, Bryant VL, Ma CS. Tangye SG, et al. J Exp Med. 2023 Jul 3;220(7):e20221105. doi: 10.1084/jem.20221105. Epub 2023 Jun 5. J Exp Med. 2023. PMID: 37273190 Free PMC article. Review.
However, analysis of individuals with monogenic defects that disrupt immune cell function are unprecedented models to link genotypes to clinical phenotypes, establish mechanisms of disease pathogenesis, and elucidate critical pathways for immune cell development and differ …
However, analysis of individuals with monogenic defects that disrupt immune cell function are unprecedented models to link genotypes to clin …
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. Among authors: tangye sg. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatmen …
Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respe …
Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria.
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Pérez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz MEJ, González ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J. Rosain J, et al. Among authors: tangye sg. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Inborn errors of human IFN-gamma-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-alpha/beta-dependent intrinsic immunity underlie viral diseases. ...By contrast, IFN-alpha/beta-dependent intrinsic immunity to nine viruses, inclu …
Inborn errors of human IFN-gamma-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-alpha/b …
Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling.
Ogishi M, Kitaoka K, Good-Jacobson KL, Rinchai D, Zhang B, Wang J, Gies V, Rao G, Nguyen T, Avery DT, Khan T, Smithmyer ME, Mackie J, Yang R, Arias AA, Asano T, Ponsin K, Chaldebas M, Zhang P, Peel JN, Bohlen J, Lévy R, Pelham SJ, Lei WT, Han JE, Fagniez I, Chrabieh M, Laine C, Langlais D, Gruber C, Al Ali F, Rahman M, Aytekin C, Benson B, Dufort MJ, Domingo-Vila C, Moriya K, Shlomchik M, Uzel G, Gray PE, Suan D, Preece K, Chua I, Okada S, Chikuma S, Kiyonari H, Tree TI, Bogunovic D, Gros P, Marr N, Speake C, Oram RA, Béziat V, Bustamante J, Abel L, Boisson B, Korganow AS, Ma CS, Johnson MB, Chamoto K, Boisson-Dupuis S, Honjo T, Casanova JL, Tangye SG. Ogishi M, et al. Among authors: tangye sg. Immunity. 2024 Dec 10;57(12):2790-2807.e15. doi: 10.1016/j.immuni.2024.10.014. Epub 2024 Nov 26. Immunity. 2024. PMID: 39603236 Free PMC article.
PD-1, PD-L1, or both could be detected on the surface of human naive B cells following in vitro activation. PD-1- or PD-L1-deficient B cells had reduced expression of the transcriptional regulator c-Myc and c-Myc-target genes in vivo, and PD-1 deficiency or neutrali …
PD-1, PD-L1, or both could be detected on the surface of human naive B cells following in vitro activation. PD-1- or PD-L1-deficient …
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E, Winter S, Garcin C, Tanita K, Hoshino A, Lenoir C, Fournier B, Migaud M, Boutboul D, Simonin M, Fernandes A, Bastard P, Le Voyer T, Roupie AL, Ben Ahmed Y, Leruez-Ville M, Burgard M, Rao G, Ma CS, Masson C, Soudais C, Picard C, Bustamante J, Tangye SG, Cheikh N, Seppänen M, Puel A, Daly M, Casanova JL, Neven B, Fischer A, Latour S. Martin E, et al. Among authors: tangye sg. Nature. 2024 Apr;628(8008):620-629. doi: 10.1038/s41586-024-07213-6. Epub 2024 Mar 20. Nature. 2024. PMID: 38509369
Epstein-Barr virus (EBV) infection can engender severe B cell lymphoproliferative diseases(1,2). The primary infection is often asymptomatic or causes infectious mononucleosis (IM), a self-limiting lymphoproliferative disorder(3). ...Here we report biallelic loss-of …
Epstein-Barr virus (EBV) infection can engender severe B cell lymphoproliferative diseases(1,2). The primary infection is often asymp …
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Arias AA, Neehus AL, Ogishi M, Meynier V, Krebs A, Lazarov T, Lee AM, Arango-Franco CA, Yang R, Orrego J, Corcini Berndt M, Rojas J, Li H, Rinchai D, Erazo-Borrás L, Han JE, Pillay B, Ponsin K, Chaldebas M, Philippot Q, Bohlen J, Rosain J, Le Voyer T, Janotte T, Amarajeeva K, Soudée C, Brollo M, Wiegmann K, Marquant Q, Seeleuthner Y, Lee D, Lainé C, Kloos D, Bailey R, Bastard P, Keating N, Rapaport F, Khan T, Moncada-Vélez M, Carmona MC, Obando C, Alvarez J, Cataño JC, Martínez-Rosado LL, Sanchez JP, Tejada-Giraldo M, L'Honneur AS, Agudelo ML, Perez-Zapata LJ, Arboleda DM, Alzate JF, Cabarcas F, Zuluaga A, Pelham SJ, Ensser A, Schmidt M, Velásquez-Lopera MM, Jouanguy E, Puel A, Krönke M, Ghirardello S, Borghesi A, Pahari S, Boisson B, Pittaluga S, Ma CS, Emile JF, Notarangelo LD, Tangye SG, Marr N, Lachmann N, Salvator H, Schlesinger LS, Zhang P, Glickman MS, Nathan CF, Geissmann F, Abel L, Franco JL, Bustamante J, Casanova JL, Boisson-Dupuis S. Arias AA, et al. Among authors: tangye sg. Nature. 2024 Sep;633(8029):417-425. doi: 10.1038/s41586-024-07866-3. Epub 2024 Aug 28. Nature. 2024. PMID: 39198650 Free PMC article.
Severe defects in human IFNgamma immunity predispose individuals to both Bacillus Calmette-Guerin disease and tuberculosis, whereas milder defects predispose only to tuberculosis(1). ...These findings contrast with those for patients with inherited complete deficiency of t …
Severe defects in human IFNgamma immunity predispose individuals to both Bacillus Calmette-Guerin disease and tuberculosis, whereas m …
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. Among authors: tangye sg. 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.
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. 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.
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. ...This report serves as a valuable resource for the molecular diagnosis of individuals with herit …
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of …
235 results