Article
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2016
Sato Takeshi, Okano Tsubasa, Tanaka-Kubota Mari, Kimura Shunsuke, Miyamoto Satoshi, Ono Shintaro, Yamashita Motoi, Mitsuiki Noriko, Takagi Masatoshi, Imai Kohsuke, Kajiwara Michiko, Ebato Takasuke, Ogata Shohei, Oda Hirotsugu, Ohara Osamu, Kanegane Hirokazu, Morio Tomohiro
Abstract excerpt
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency disease, and it is characterized by marked impairment in cellular and humoral immunity. Mutations in several genes cause SCID, one of which is Janus kinase 3 (JAK3), resulting in autosomal recessive T(-)B(+)NK(-) SCID. Only three patients with JAK3-deficient SCID have been reported in Japan. We herein describe the case of...
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