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Page 1
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: kanegane h. J Clin Immunol. 2024 Aug 15;44(8):178. doi: 10.1007/s10875-024-01785-8. J Clin Immunol. 2024. PMID: 39143376 Free PMC article. No abstract available.
Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases). Matsuda T, et al. Ann Rheum Dis. 2020 Nov;79(11):1492-1499. doi: 10.1136/annrheumdis-2020-217320. Epub 2020 Jul 9. Ann Rheum Dis. 2020. PMID: 32647028
Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19.
Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Tanaka J, Morio T, Okada S. Eto S, et al. Among authors: kanegane h. Res Sq [Preprint]. 2022 Mar 11:rs.3.rs-1430985. doi: 10.21203/rs.3.rs-1430985/v1. Res Sq. 2022. Update in: J Clin Immunol. 2022 Oct;42(7):1360-1370. doi: 10.1007/s10875-022-01308-3 PMID: 35291303 Free PMC article. Updated. Preprint.
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: kanegane h. J Clin Immunol. 2023 Dec 22;44(1):20. doi: 10.1007/s10875-023-01634-0. J Clin Immunol. 2023. PMID: 38129739
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.
Hashiguchi S, Tomomasa D, Nishikawa T, Ishikawa S, Akaike H, Kobae H, Shirai T, Nagao T, Noma K, Okada S, Kamuro K, Okamoto Y, Kanegane H. Hashiguchi S, et al. Among authors: kanegane h. J Clin Immunol. 2024 Jun 19;44(7):154. doi: 10.1007/s10875-024-01751-4. J Clin Immunol. 2024. PMID: 38896123 Free PMC article.
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: kanegane h. J Clin Immunol. 2024 Jul 29;44(7):167. doi: 10.1007/s10875-024-01758-x. J Clin Immunol. 2024. PMID: 39073655 Free PMC article.
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H, Nakajima D, Konno R, Hijikata A, Higashiguchi M, Nihira H, Shimodera S, Miyamoto T, Nishitani-Isa M, Hiejima E, Izawa K, Takita J, Heike T, Okamura K, Ohnishi H, Ishimura M, Okada S, Yamashita M, Morio T, Kanegane H, Imai K, Nakamura Y, Nonoyama S, Uchiyama T, Onodera M, Nishikomori R, Ohara O, Kawashima Y, Yasumi T. Shibata H, et al. Among authors: kanegane h. J Clin Immunol. 2024 Oct 25;45(1):33. doi: 10.1007/s10875-024-01821-7. J Clin Immunol. 2024. PMID: 39453496 Free PMC article.
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: kanegane h. Clin Immunol. 2025 Jan;270:110405. doi: 10.1016/j.clim.2024.110405. Epub 2024 Nov 26. Clin Immunol. 2025. PMID: 39592026
Case Report: The leopard sign as a potential characteristic of chronic granulomatous disease-associated colitis, unrelated to colitis severity.
Nishikawa T, Tomoda T, Nakamura A, Nagahama J, Tanaka A, Kanmura S, Kirishima M, Tanimoto A, Okano T, Kamiya T, Okamoto K, Kirimura S, Morio T, Okamoto Y, Kanegane H. Nishikawa T, et al. Among authors: kanegane h. Front Immunol. 2023 Dec 13;14:1208590. doi: 10.3389/fimmu.2023.1208590. eCollection 2023. Front Immunol. 2023. PMID: 38152406 Free PMC article.
432 results