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Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.
Yoshioka T, Nishikomori R, Hara J, Okada K, Hashii Y, Okafuji I, Nodomi S, Kawai T, Izawa K, Ohnishi H, Yasumi T, Nakahata T, Heike T. Yoshioka T, et al. Among authors: yasumi t. J Clin Immunol. 2013 Oct;33(7):1165-74. doi: 10.1007/s10875-013-9924-z. Epub 2013 Jul 18. J Clin Immunol. 2013. PMID: 23864385
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T. Nishikomori R, et al. Among authors: yasumi t. Blood. 2004 Jun 15;103(12):4565-72. doi: 10.1182/blood-2003-10-3655. Epub 2004 Jan 15. Blood. 2004. PMID: 14726382 Free article.
A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene.
Sakai H, Ito S, Nishikomori R, Takaoka Y, Kawai T, Saito M, Okafuji I, Yasumi T, Heike T, Nakahata T. Sakai H, et al. Among authors: yasumi t. Rheumatology (Oxford). 2010 Jan;49(1):194-6. doi: 10.1093/rheumatology/kep315. Epub 2009 Oct 23. Rheumatology (Oxford). 2010. PMID: 19854854 No abstract available.
136 results