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ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.
Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T. Okura Y, et al. Among authors: kato z. Br J Haematol. 2011 Jun;153(5):675-6. doi: 10.1111/j.1365-2141.2011.08640.x. Epub 2011 Mar 16. Br J Haematol. 2011. PMID: 21410451 Free article. No abstract available.
A case of selective IgG subclass deficiency with STAT3 mutation.
Ohnishi H, Kawamoto N, Kaneko H, Kasahara K, Ohara O, Kato Z, Fukao T. Ohnishi H, et al. Among authors: kato z. Allergol Int. 2016 Oct;65(4):495-497. doi: 10.1016/j.alit.2016.05.004. Epub 2016 Jun 11. Allergol Int. 2016. PMID: 27302695 Free article. No abstract available.
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Asano T, Ohnishi H, Kato Z, Sekinaka Y, Zaha K, Kato T, Okano T, Takashima T, Kobayashi K, Kimura M, Kunitsu T, Maruo Y, Kanegane H, Takagi M, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Morio T, Nonoyama S. Tsujita Y, et al. Among authors: kato t, kato z. J Allergy Clin Immunol. 2016 Dec;138(6):1672-1680.e10. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14. J Allergy Clin Immunol. 2016. PMID: 27426521
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H. Tanita K, et al. Among authors: kato z. J Clin Immunol. 2021 May;41(4):780-790. doi: 10.1007/s10875-021-00975-y. Epub 2021 Jan 26. J Clin Immunol. 2021. PMID: 33501615
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
Inoue K, Miyamoto S, Tomomasa D, Adachi E, Azumi S, Horikoshi Y, Ishihara T, Osone S, Kawahara Y, Kudo K, Kato Z, Ohnishi H, Kashimada K, Imai K, Ohara O, van Zelm MC, Cowan MJ, Morio T, Kanegane H. Inoue K, et al. Among authors: kato z. J Clin Immunol. 2023 Apr;43(3):585-594. doi: 10.1007/s10875-022-01405-3. Epub 2022 Nov 16. J Clin Immunol. 2023. PMID: 36385359
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Nishimura S, Kobayashi Y, Ohnishi H, Moriya K, Tsumura M, Sakata S, Mizoguchi Y, Takada H, Kato Z, Sancho-Shimizu V, Picard C, Irani SR, Ohara O, Casanova JL, Puel A, Ishikawa N, Okada S, Kobayashi M. Nishimura S, et al. Among authors: kato z. J Clin Immunol. 2021 Jan;41(1):125-135. doi: 10.1007/s10875-020-00885-5. Epub 2020 Oct 20. J Clin Immunol. 2021. PMID: 33083971 Free PMC article.
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H. Tanita K, et al. Among authors: kato z. J Clin Immunol. 2021 May;41(4):791-794. doi: 10.1007/s10875-021-01014-6. J Clin Immunol. 2021. PMID: 33694042 No abstract available.
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M. Kagawa R, et al. Among authors: kato z. J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20. J Allergy Clin Immunol. 2017. PMID: 28011069 Free PMC article.
150 results