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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Belot A, Rice GI, Omarjee SO, Rouchon Q, Smith EMD, Moreews M, Tusseau M, Frachette C, Bournhonesque R, Thielens N, Gaboriaud C, Rouvet I, Chopin E, Hoshino A, Latour S, Ranchin B, Cimaz R, Romagnani P, Malcus C, Fabien N, Sarda MN, Kassai B, Lega JC, Decramer S, Abou-Jaoude P, Bruce IN, Simonet T, Bardel C, Rollat-Farnier PA, Viel S, Reumaux H, O'Sullivan J, Walzer T, Mathieu AL, Marenne G, Ludwig T, Genin E, Ellingford J, Bader-Meunier B, Briggs TA, Beresford MW, Crow YJ; FREX Consortium; GENIAL Investigators; UK JSLE Study Group. Belot A, et al. Among authors: hoshino a. Lancet Rheumatol. 2020 Feb;2(2):e99-e109. doi: 10.1016/S2665-9913(19)30142-0. Epub 2020 Jan 13. Lancet Rheumatol. 2020. PMID: 38263665
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: hoshino a. Nature. 2024 Apr;628(8008):620-629. doi: 10.1038/s41586-024-07213-6. Epub 2024 Mar 20. Nature. 2024. PMID: 38509369
Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH.
Tomomasa D, Tanita K, Hiruma Y, Hoshino A, Kudo K, Azumi S, Shiota M, Yamaoka M, Eguchi K, Ishimura M, Tanaka Y, Iwatsuki K, Okuno K, Hama A, Sakamoto KI, Taga T, Goto K, Ota H, Ichiki A, Kanda K, Miyamura T, Endo S, Ohnishi H, Sasahara Y, Arai A, Fornier B, Imadome KI, Morio T, Latour S, Kanegane H. Tomomasa D, et al. Among authors: hoshino a. Int J Hematol. 2024 Aug;120(2):241-251. doi: 10.1007/s12185-024-03786-0. Epub 2024 May 3. Int J Hematol. 2024. PMID: 38700651
Correction: Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH.
Tomomasa D, Tanita K, Hiruma Y, Hoshino A, Kudo K, Azumi S, Shiota M, Yamaoka M, Eguchi K, Ishimura M, Tanaka Y, Iwatsuki K, Okuno K, Hama A, Sakamoto KI, Taga T, Goto K, Ota H, Ichiki A, Kanda K, Miyamura T, Endo S, Ohnishi H, Sasahara Y, Arai A, Fournier B, Imadome KI, Morio T, Latour S, Kanegane H. Tomomasa D, et al. Among authors: hoshino a. Int J Hematol. 2024 Dec 16. doi: 10.1007/s12185-024-03886-x. Online ahead of print. Int J Hematol. 2024. PMID: 39680352 No abstract available.
Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.
Tomomasa D, Takagi M, Watanabe R, Wakatsuki R, Miyamoto S, Hoshino A, Kamiya T, Isoda T, Kobayashi A, Kosaki K, Sakura F, Asano T, Uchiyama T, Okada S, Morio T, Kanegane H. Tomomasa D, et al. Among authors: hoshino a. Clin Immunol. 2025 Jan;270:110405. doi: 10.1016/j.clim.2024.110405. Epub 2024 Nov 26. Clin Immunol. 2025. PMID: 39592026
565 results