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Page 1
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: sakura f. Clin Immunol. 2025 Jan;270:110405. doi: 10.1016/j.clim.2024.110405. Epub 2024 Nov 26. Clin Immunol. 2025. PMID: 39592026
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: sakura f. 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.
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.
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.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G, Aisaki J, Hara K, Tsumura M, Kagawa R, Sakura F, Sasai H, Yuasa M, Shigematsu Y, Okada S. Tajima G, et al. Among authors: sakura f. Int J Neonatal Screen. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015. Int J Neonatal Screen. 2024. PMID: 38390979 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.
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.
18 results