Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency

Takeshi Sato, Tsubasa Okano, Mari Tanaka-Kubota, Shunsuke Kimura, Satoshi Miyamoto, Shintaro Ono, Motoi Yamashita, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Takasuke Ebato, Shohei Ogata, Hirotsugu Oda, Osamu Ohara, Hirokazu Kanegane, Tomohiro Morio

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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 a 6-month-old girl with pneumocystis pneumonia, who was diagnosed with SCID with compound heterozygous JAK3 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.

Original languageEnglish
Pages (from-to)1076-1080
Number of pages5
JournalPediatrics International
Issue number10
Publication statusPublished - 2016 Oct 1
Externally publishedYes


  • Janus kinase 3
  • compound heterozygous mutation
  • severe combined immunodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency'. Together they form a unique fingerprint.

Cite this