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Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS. Petersheim D, et al. Among authors: nishikomori r. J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17. J Allergy Clin Immunol. 2018. PMID: 28629746 Free PMC article.
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: nishikomori r. 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
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Imamura M, Kawai T, Okada S, Izawa K, Takachi T, Iwabuchi H, Yoshida S, Hosokai R, Kanegane H, Yamamoto T, Umezu H, Nishikomori R, Heike T, Uchiyama M, Imai C. Imamura M, et al. Among authors: nishikomori r. J Clin Immunol. 2011 Oct;31(5):802-10. doi: 10.1007/s10875-011-9568-9. Epub 2011 Jul 14. J Clin Immunol. 2011. PMID: 21755389
Nationwide survey of patients with primary immunodeficiency diseases in Japan.
Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T. Ishimura M, et al. Among authors: nishikomori r. J Clin Immunol. 2011 Dec;31(6):968-76. doi: 10.1007/s10875-011-9594-7. Epub 2011 Sep 29. J Clin Immunol. 2011. PMID: 21956496 Free article.
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T. Kawai T, et al. Among authors: nishikomori r. Blood. 2012 Jun 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19. Blood. 2012. PMID: 22517901 Free article.
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M. Tsumura M, et al. Among authors: nishikomori r. Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22573496 Free PMC article.
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: nishikomori r. 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
187 results