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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: mizoguchi y. 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.
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Sakata S, Tsumura M, Matsubayashi T, Karakawa S, Kimura S, Tamaura M, Okano T, Naruto T, Mizoguchi Y, Kagawa R, Nishimura S, Imai K, Le Voyer T, Casanova JL, Bustamante J, Morio T, Ohara O, Kobayashi M, Okada S. Sakata S, et al. Among authors: mizoguchi y. Int Immunol. 2020 Sep 30;32(10):663-671. doi: 10.1093/intimm/dxaa043. Int Immunol. 2020. PMID: 32603428
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
Imanaka Y, Taniguchi M, Doi T, Tsumura M, Nagaoka R, Shimomura M, Asano T, Kagawa R, Mizoguchi Y, Karakawa S, Arihiro K, Imai K, Morio T, Casanova JL, Puel A, Ohara O, Kamei K, Kobayashi M, Okada S. Imanaka Y, et al. Among authors: mizoguchi y. J Clin Immunol. 2021 Jul;41(5):975-986. doi: 10.1007/s10875-021-00988-7. Epub 2021 Feb 8. J Clin Immunol. 2021. PMID: 33558980
Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.
Karakawa S, Okada S, Tsumura M, Mizoguchi Y, Ohno N, Yasunaga S, Ohtsubo M, Kawai T, Nishikomori R, Sakaguchi T, Takihara Y, Kobayashi M. Karakawa S, et al. Among authors: mizoguchi y. J Clin Immunol. 2011 Oct;31(5):762-72. doi: 10.1007/s10875-011-9560-4. Epub 2011 Jul 1. J Clin Immunol. 2011. PMID: 21720903
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
Kataoka S, Muramatsu H, Okuno Y, Hayashi Y, Mizoguchi Y, Tsumura M, Okada S, Kobayashi M, Sano C, Sato H, Oh-Iwa I, Ito M, Kojima D, Hama A, Takahashi Y, Kojima S. Kataoka S, et al. Among authors: mizoguchi y. J Allergy Clin Immunol. 2016 Feb;137(2):619-622.e1. doi: 10.1016/j.jaci.2015.06.028. Epub 2015 Aug 1. J Allergy Clin Immunol. 2016. PMID: 26242301 No abstract available.
Inborn errors of STAT1 immunity.
Mizoguchi Y, Okada S. Mizoguchi Y, et al. Curr Opin Immunol. 2021 Oct;72:59-64. doi: 10.1016/j.coi.2021.02.009. Epub 2021 Apr 8. Curr Opin Immunol. 2021. PMID: 33839590 Review.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study … See abstract for full author list ➔ Asano T, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 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: mizoguchi y. 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.
560 results