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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: kagawa r. Int Immunol. 2020 Sep 30;32(10):663-671. doi: 10.1093/intimm/dxaa043. Int Immunol. 2020. PMID: 32603428
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. 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.
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: kagawa r. 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
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kagawa r. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
146 results