{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T10:28:44Z","timestamp":1782815324557,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2021LSW010"],"award-info":[{"award-number":["ZR2021LSW010"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["2022M721954"],"award-info":[{"award-number":["2022M721954"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Postdoctoral Funding","award":["ZR2021LSW010"],"award-info":[{"award-number":["ZR2021LSW010"]}]},{"name":"National Postdoctoral Funding","award":["2022M721954"],"award-info":[{"award-number":["2022M721954"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2023,9,13]]},"abstract":"<jats:p>Janus kinase 3 (JAK3, NP_000206.2) is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction JAK\/STAT pathway. JAK3 gene variants can lead to autosomal recessive severe combined immunodeficiency (SCID), which is T-cell-negative, B-cell-positive, and NK-cell-negative (OMIM: 600802). We have detected one infant suffering from cytomegalovirus, fever, and impaired respiratory function with low lymphocytes and immunoglobulin. Two compound heterozygous variants, c.1914G&gt;T (p.L638=) and c.1048C&gt;T (p.R350W), were identified in the proband, each of which was inherited from one unaffected parent. Analysis of splicing was carried out by the Sanger sequencing and RT-PCR from peripheral blood and a minigene splicing assay which both showed a deletion of exon 14 (128\u2009bp) resulting from the c.1914G&gt;T variant at the mRNA level. Bioinformatic analysis for the reported c.1048C&gt;T (p.R350W) variant suggests that the variant is pathogenic. Based on the clinical characteristics of the patient and the functional verification of the gene variants, our pediatricians finally have diagnosed the infant as SCID (OMIM: 600802). The study is the first study regarding a synonymous variant of JAK3 gene influencing alternative splicing. Our findings expand the mutation spectrum leading to JAK3 deficiency-related diseases and provide exact information for genetic counseling.<\/jats:p>","DOI":"10.1155\/2023\/6633251","type":"journal-article","created":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T20:05:05Z","timestamp":1694635505000},"page":"1-9","source":"Crossref","is-referenced-by-count":7,"title":["Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child"],"prefix":"10.1155","volume":"2023","author":[{"given":"Xingcui","family":"Wang","sequence":"first","affiliation":[{"name":"Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), China"},{"name":"Department of Rheumatology and Immunology, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rujin","family":"Tian","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haozheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1682-5547","authenticated-orcid":true,"given":"Mohnad","family":"Abdalla","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Second Hospital of Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqiang","family":"Lv","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Gao","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiyu","family":"Lin","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Imaging, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9096-8637","authenticated-orcid":true,"given":"Qiuxia","family":"He","sequence":"additional","affiliation":[{"name":"Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6473-5872","authenticated-orcid":true,"given":"Dong","family":"Wang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4799-9133","authenticated-orcid":true,"given":"Kaihui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute, Children\u2019s Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R700016200"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13040800"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00701-8"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1188"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.619146"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-10-809822"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.clml.2018.03.007"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.22074\/cellj.2020.6849"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.08.013"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.987666"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2022.06.003"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/alz.12653"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2023\/6633251.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2023\/6633251.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2023\/6633251.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T20:05:11Z","timestamp":1694635511000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/humu\/2023\/6633251\/"}},"subtitle":[],"editor":[{"given":"Nancy","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2023,9,13]]},"references-count":13,"alternative-id":["6633251","6633251"],"URL":"https:\/\/doi.org\/10.1155\/2023\/6633251","relation":{},"ISSN":["1098-1004"],"issn-type":[{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,13]]}}}