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Page 1
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzmán Cotaya R, Okada S, Picard C, Patin E, Ramirez-Uribe N, Bustamante-Ogando JC, Scheffler-Mendoza SC, Yamazaki-Nakashimada MA, Saez-de-Ocariz M, Espinosa Padilla SE, Gonzalez-Serrano ME. Liquidano-Perez E, et al. Among authors: patin e. Pediatr Allergy Immunol. 2024 Feb;35(2):e14073. doi: 10.1111/pai.14073. Pediatr Allergy Immunol. 2024. PMID: 38351896
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL. Wang Y, et al. Among authors: patin e. J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19. J Exp Med. 2016. PMID: 27647349 Free PMC article.
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A, Abel L, Orth G, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: patin e. PLoS One. 2012;7(8):e44010. doi: 10.1371/journal.pone.0044010. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952854 Free PMC article.
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: patin e. J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1. J Clin Invest. 2012. PMID: 22850876 Free PMC article.
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL. Martínez-Barricarte R, et al. Among authors: patin e. Sci Immunol. 2018 Dec 21;3(30):eaau6759. doi: 10.1126/sciimmunol.aau6759. Sci Immunol. 2018. PMID: 30578351 Free PMC article.
Evolutionary genetic dissection of human interferons.
Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L. Manry J, et al. Among authors: patin e. J Exp Med. 2011 Dec 19;208(13):2747-59. doi: 10.1084/jem.20111680. Epub 2011 Dec 12. J Exp Med. 2011. PMID: 22162829 Free PMC article. Clinical Trial.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19… See abstract for full author list ➔ Bastard P, et al. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996 Free PMC article.
126 results