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Page 1
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: rapaport f. 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.
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Ogishi M, et al. Among authors: rapaport f. Nat Med. 2021 Sep;27(9):1646-1654. doi: 10.1038/s41591-021-01388-5. Epub 2021 Jun 28. Nat Med. 2021. PMID: 34183838 Free PMC article.
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.
Drutman SB, Mansouri D, Mahdaviani SA, Neehus AL, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B, Fisch R, Rahman M, Khan T, Al Ali F, Marjani M, Mansouri N, Lorenzo-Diaz L, Emile JF, Marr N, Jouanguy E, Bustamante J, Abel L, Boisson-Dupuis S, Béziat V, Nathan C, Casanova JL. Drutman SB, et al. Among authors: rapaport f. N Engl J Med. 2020 Jan 30;382(5):437-445. doi: 10.1056/NEJMoa1910640. N Engl J Med. 2020. PMID: 31995689 Free PMC article.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Béziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J. Kerner G, et al. Among authors: rapaport f. J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460. J Clin Invest. 2020. PMID: 32163377 Free PMC article.
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Béziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J. Le Voyer T, et al. Among authors: rapaport f. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2102804118. doi: 10.1073/pnas.2102804118. Proc Natl Acad Sci U S A. 2021. PMID: 33876776 Free PMC article.
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
Lévy R, Langlais D, Béziat V, Rapaport F, Rao G, Lazarov T, Bourgey M, Zhou YJ, Briand C, Moriya K, Ailal F, Avery DT, Markle J, Lim AI, Ogishi M, Yang R, Pelham S, Emam M, Migaud M, Deswarte C, Habib T, Saraiva LR, Moussa EA, Guennoun A, Boisson B, Belkaya S, Martinez-Barricarte R, Rosain J, Belkadi A, Breton S, Payne K, Benhsaien I, Plebani A, Lougaris V, Di Santo JP, Neven B, Abel L, Ma CS, Bousfiha AA, Marr N, Bustamante J, Liu K, Gros P, Geissmann F, Tangye SG, Casanova JL, Puel A. Lévy R, et al. Among authors: rapaport f. J Clin Invest. 2021 Sep 1;131(17):e150143. doi: 10.1172/JCI150143. J Clin Invest. 2021. PMID: 34623332 Free PMC article.
Human IRF1 governs macrophagic IFN-γ 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: rapaport f. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Helper T cell immunity in humans with inherited CD4 deficiency.
Guérin A, Moncada-Vélez M, Jackson K, Ogishi M, Rosain J, Mancini M, Langlais D, Nunez A, Webster S, Goyette J, Khan T, Marr N, Avery DT, Rao G, Waterboer T, Michels B, Neves E, Iracema Morais C, London J, Mestrallet S, Quartier Dit Maire P, Neven B, Rapaport F, Seeleuthner Y, Lev A, Simon AJ, Montoya J, Barel O, Gómez-Rodríguez J, Orrego JC, L'Honneur AS, Soudée C, Rojas J, Velez AC, Sereti I, Terrier B, Marin N, García LF, Abel L, Boisson-Dupuis S, Reis J, Marinho A, Lisco A, Faria E, Goodnow CC, Vasconcelos J, Béziat V, Ma CS, Somech R, Casanova JL, Bustamante J, Franco JL, Tangye SG. Guérin A, et al. Among authors: rapaport f. J Exp Med. 2024 May 6;221(5):e20231044. doi: 10.1084/jem.20231044. Epub 2024 Apr 1. J Exp Med. 2024. PMID: 38557723 Free PMC article.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Béziat V, et al. Among authors: rapaport f. Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1. Cell. 2021. PMID: 34214472 Free PMC article.
369 results