{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:45:11Z","timestamp":1694756711711},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,9,4]],"date-time":"2016-09-04T00:00:00Z","timestamp":1472947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Severe combined immunodeficiency (<jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>) 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 <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>, one of which is <jats:italic>Janus kinase 3<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>3<\/jats:italic>), resulting in autosomal recessive T(\u2013)B(+)<jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content>(\u2013) <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>. Only three patients with <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>3<\/jats:italic>\u2010deficient <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content> have been reported in Japan. We herein describe the case of a 6\u2010month\u2010old girl with pneumocystis pneumonia, who was diagnosed with <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content> with compound heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>3<\/jats:italic> mutations (c.1568G&gt;A + c.421\u201010G&gt;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 <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> splicing. The patient was successfully treated with bone marrow transplantation from a haploidentical donor.<\/jats:p>","DOI":"10.1111\/ped.13070","type":"journal-article","created":{"date-parts":[[2016,9,5]],"date-time":"2016-09-05T04:09:17Z","timestamp":1473048557000},"page":"1076-1080","source":"Crossref","is-referenced-by-count":6,"title":["Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency"],"prefix":"10.1111","volume":"58","author":[{"given":"Takeshi","family":"Sato","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Okano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Tanaka\u2010Kubota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunsuke","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaro","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motoi","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Mitsuiki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masatoshi","family":"Takagi","sequence":"additional","affiliation":[{"name":"Department of Community Pediatrics, Perinatal and Maternal Medicine Graduate School of Medical and Dental Sciences Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohsuke","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Community Pediatrics, Perinatal and Maternal Medicine Graduate School of Medical and Dental Sciences Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Kajiwara","sequence":"additional","affiliation":[{"name":"Department of Blood Transfusion Medical Hospital Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takasuke","family":"Ebato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kitasato University School of Medicine Sagamihara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shohei","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kitasato University School of Medicine Sagamihara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotsugu","family":"Oda","sequence":"additional","affiliation":[{"name":"Laboratory for Integrative Genomics RIKEN Center for Integrative Medical Sciences Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[{"name":"Laboratory for Integrative Genomics RIKEN Center for Integrative Medical Sciences Yokohama Japan"},{"name":"Department of Technology Development Kazusa DNA Research Institute Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0201-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.15.1.93"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/377065a0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.270.5237.797"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200x.2005.02103.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2009.01217.x"},{"key":"e_1_2_7_8_1","first-page":"143","article-title":"A male case of severe combined immunodeficiency (T\u2010B+NK\u2010 SCID) caused by Jak3 gene mutation","volume":"109","author":"Hirano T","year":"2005","journal-title":"J. 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