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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A. Lévy R, et al. Among authors: kobayashi m. Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7. Proc Natl Acad Sci U S A. 2016. PMID: 27930337 Free PMC article.
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Okada S, et al. Among authors: kobayashi m. J Med Genet. 2007 Aug;44(8):485-91. doi: 10.1136/jmg.2007.049635. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513528 Free PMC article.
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Shirao K, et al. Among authors: kobayashi m. Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Hum Genet. 2010. PMID: 20376488 Review.
[Hematological malignancies in congenital neutropenia].
Okada S, Nakamura K, Kobayashi M. Okada S, et al. Among authors: kobayashi m. Rinsho Ketsueki. 2010 Jul;51(7):553-8. Rinsho Ketsueki. 2010. PMID: 20693776 Review. Japanese. No abstract available.
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