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Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency
Author(s) -
Sato Takeshi,
Okano Tsubasa,
TanakaKubota 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
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13070
Subject(s) - medicine , girl , compound heterozygosity , mutation , janus kinase , genetics , gene , receptor , biology
Abstract 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 ( JAK 3 ), resulting in autosomal recessive T(–)B(+) NK (–) SCID . Only three patients with JAK 3 ‐deficient SCID have been reported in Japan. We herein describe the case of a 6‐month‐old girl with pneumocystis pneumonia, who was diagnosed with SCID with compound heterozygous JAK 3 mutations (c.1568G>A + c.421‐10G>A). One of the mutations was previously reported in another Japanese patient. The other mutation was a novel and de novo relatively deep intronic mutation causing aberrant RNA splicing. The patient was successfully treated with bone marrow transplantation from a haploidentical donor.