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Page 1
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Staines-Boone AT, Vignesh P, Tsumura M, de la Garza Fernández G, Tyagi R, Rawat A, Das J, Tomomasa D, Asano T, Hijikata A, Salazar-Gálvez Y, Kanegane H, Okada S, Reyes SOL. Staines-Boone AT, et al. Among authors: tsumura m. J Clin Immunol. 2023 Dec 22;44(1):20. doi: 10.1007/s10875-023-01634-0. J Clin Immunol. 2023. PMID: 38129739
The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, 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 L, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath J, Franco J, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte O, Zhang Y, Snow A, Holland S, Biggs C, Moncada-Vélez M, Arias A, Lorenzo L, Boucherit S, Anglicheau D, Planas A, Haerynck F, Duvlis S, Nussbaum R, Ozcelik T, Keles S, Bousfiha A, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarstrom Q, Hammarstrom L, Dupont A, Kurolap A, Metz C, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros L, 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 S, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann N, Shcherbina A, Lau Y… See abstract for full author list ➔ Manry J, et al. Among authors: tsumura m. Res Sq [Preprint]. 2022 Jan 14:rs.3.rs-1225906. doi: 10.21203/rs.3.rs-1225906/v1. Res Sq. 2022. Update in: Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119 PMID: 35043109 Free PMC article. Updated. Preprint.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
Noma K, Tsumura M, Nguyen T, Asano T, Sakura F, Tamaura M, Imanaka Y, Mizoguchi Y, Karakawa S, Hayakawa S, Shoji T, Hosokawa J, Izawa K, Ling Y, Casanova JL, Puel A, Tangye SG, Ma CS, Ohara O, Okada S. Noma K, et al. Among authors: tsumura m. J Clin Immunol. 2023 Dec 22;44(1):18. doi: 10.1007/s10875-023-01601-9. J Clin Immunol. 2023. PMID: 38129603 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: tsumura m. 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.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. Among authors: tsumura m. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Ono R, Tsumura M, Shima S, Matsuda Y, Gotoh K, Miyata Y, Yoto Y, Tomomasa D, Utsumi T, Ohnishi H, Kato Z, Ishiwada N, Ishikawa A, Wada T, Uhara H, Nishikomori R, Hasegawa D, Okada S, Kanegane H. Ono R, et al. Among authors: tsumura m. J Clin Immunol. 2023 Feb;43(2):466-478. doi: 10.1007/s10875-022-01396-1. Epub 2022 Nov 7. J Clin Immunol. 2023. PMID: 36336768
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.
Noma K, Tsumura M, Nguyen T, Asano T, Sakura F, Tamaura M, Imanaka Y, Mizoguchi Y, Karakawa S, Hayakawa S, Shoji T, Hosokawa J, Izawa K, Ling Y, Casanova JL, Puel A, Tangye SG, Ma CS, Ohara O, Okada S. Noma K, et al. Among authors: tsumura m. Res Sq [Preprint]. 2023 Aug 1:rs.3.rs-3062583. doi: 10.21203/rs.3.rs-3062583/v1. Res Sq. 2023. Update in: J Clin Immunol. 2023 Dec 22;44(1):18. doi: 10.1007/s10875-023-01601-9 PMID: 37577484 Free PMC article. Updated. Preprint.
154 results