Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
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.
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Takeshi
T
Sato
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Tsubasa
T
Okano
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Mari
M
Tanaka-Kubota
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shunsuke
S
Kimura
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Satoshi
S
Miyamoto
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shintaro
S
Ono
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Motoi
M
Yamashita
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Noriko
N
Mitsuiki
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo, Japan.
Masatoshi
M
Takagi
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo, Japan.
Kohsuke
K
Imai
Department of Blood Transfusion, Medical Hospital, Tokyo Medical and Dental University, Tokyo, Japan.
Michiko
M
Kajiwara
Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan.
Takasuke
T
Ebato
Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan.
Shohei
S
Ogata
Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Hirotsugu
H
Oda
Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.|Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan.
Osamu
O
Ohara
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. hkanegane.ped@tmd.ac.jp.
Hirokazu
H
Kanegane
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Tomohiro
T
Morio
D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D053616:Janus Kinase 3 / Q000235:genetics* / Q000378:metabolism; D007564:Japan; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000235:genetics*
D004247:DNA; C507933:JAK3 protein, human; D053616:Janus Kinase 3
Janus kinase 3; compound heterozygous mutation; severe combined immunodeficiency