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2020 1
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Page 1
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.
Iwata T, Mizoguchi Y, Yoshimoto T, Tsumura M, Sakura F, Johnson JR, Matsuda S, Ouhara K, Nagatani Y, Asano T, Ohnishi H, Kato Z, Mihara K, Kanegane H, Ueda T, Sasaki S, Taniguchi Y, Ninomiya Y, Ohno Y, Suzuki-Takedachi K, Sotomaru Y, Sakuma T, Yamamoto T, Matsuda Y, Kume K, Sanui T, Nishimura F, Kajiya M, Ueki Y, Kurihara H, Morino H, Okada S, Kawakami H, Mizuno N. Iwata T, et al. Among authors: sakura f. J Exp Med. 2025 Sep 1;222(9):e20231911. doi: 10.1084/jem.20231911. Epub 2025 Jul 15. J Exp Med. 2025. PMID: 40663042 Free PMC article.
Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.
Moriya K, Kamiyama Y, Ogino R, Kaneko S, Isoda T, Kamiya T, Sakai Y, Hirose F, Hagiwara H, Iwama I, Nambu R, Uejima Y, Sakura F, Tsumura M, Izawa K, Matsuda Y, Nakatani N, Tamura A, Nozawa T, Shimizu M, Wada T, Okada S, Kanegane H, Imai K. Moriya K, et al. Among authors: sakura f. Front Immunol. 2026 Jul 8;17:1866459. doi: 10.3389/fimmu.2026.1866459. eCollection 2026. Front Immunol. 2026. PMID: 42488646 Free PMC article.
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: sakura f. 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.
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, Ohara O, Tanaka J, Morio T, Okada S. Eto S, et al. Among authors: sakura f. J Clin Immunol. 2022 Oct;42(7):1360-1370. doi: 10.1007/s10875-022-01308-3. Epub 2022 Jun 29. J Clin Immunol. 2022. PMID: 35764767 Free PMC article.
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.
Kaneko S, Sakura F, Tanita K, Shimbo A, Nambu R, Yoshida M, Umetsu S, Inui A, Okada C, Tsumura M, Yamada M, Suzuki H, Kosaki K, Ohara O, Shimizu M, Morio T, Okada S, Kanegane H. Kaneko S, et al. Among authors: sakura f. Immunother Adv. 2023 Nov 24;3(1):ltad027. doi: 10.1093/immadv/ltad027. eCollection 2023. Immunother Adv. 2023. PMID: 38549698 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: sakura f. 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.
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: sakura f. 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.
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.
Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S. Sakura F, et al. PNAS Nexus. 2023 Mar 28;2(4):pgad104. doi: 10.1093/pnasnexus/pgad104. eCollection 2023 Apr. PNAS Nexus. 2023. PMID: 37077884 Free PMC article.
23 results