{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:10:01Z","timestamp":1792167001555,"version":"4.4.0"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,28]],"date-time":"2014-11-28T00:00:00Z","timestamp":1417132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>X\u2010linked severe combined immunodeficiency is caused by mutations in the <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u20102 receptor common gamma chain and classically presents in the first 6\u00a0months of life with predisposition to bacterial, viral and fungal infections. In most instances, affected individuals are lymphopenic with near complete absence of <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> cells and <jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content> cells. We report a boy who presented at 12\u00a0months of age with <jats:italic><jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>neumocystis jiroveci<\/jats:italic> pneumonia and a family history consistent with <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked recessive inheritance. He had a normal lymphocyte count including the presence of <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> cells and a broad <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2010cell\u2010receptor diversity, as well as normal surface expression of the common gamma chain (<jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>132) protein. He however had profound hypogammaglobulinaemia, and <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u20102\u2010induced <jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>5 phosphorylation was absent. Sequencing of <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u20102<jats:styled-content style=\"fixed-case\">RG<\/jats:styled-content> demonstrated a 12\u2010base pair intronic deletion close to the canonical splice site of exon 5, which resulted in a variety of truncated <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">RG<\/jats:styled-content> m<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> species. A review of the literature identified 4 other patients with <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2010cell\u2010positive <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>, with the current patient being the first associated with an m<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> splicing defect. This case raises the question of how a dysfunctional protein incapable of mediating <jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>5 phosphorylation might nonetheless support <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2010cell development. Possible explanations are that <jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>5\u2010mediated signal transduction may be less relevant to <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>7\u2010receptor\u2010mediated <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2010cell development than are other <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>7<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>\u2010induced intracellular transduction pathways or that a low level of <jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>5 phosphorylation, undetectable in the laboratory, may be sufficient to support some <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\u2010cell development.<\/jats:p>","DOI":"10.1111\/iji.12166","type":"journal-article","created":{"date-parts":[[2014,11,29]],"date-time":"2014-11-29T05:30:40Z","timestamp":1417239040000},"page":"11-14","source":"Crossref","is-referenced-by-count":10,"title":["A novel intronic splice site deletion of the <scp>IL<\/scp>\u20102 receptor common gamma chain results in expression of a dysfunctional protein and <scp>T<\/scp>\u2010cell\u2010positive <scp>X<\/scp>\u2010linked <scp>S<\/scp>evere combined immunodeficiency"],"prefix":"10.1111","volume":"42","author":[{"given":"P. E. A.","family":"Gray","sequence":"first","affiliation":[{"name":"Immunology and Infectious Diseases Sydney Children's Hospital Sydney NSW Australia"},{"name":"School of Women's and Children's Health University of New South Wales Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. J.","family":"Logan","sequence":"additional","affiliation":[{"name":"Gene Therapy Research Unit Children's Medical Research Institute and Children's Hospital at Westmead Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. E.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Gene Therapy Research Unit Children's Medical Research Institute and Children's Hospital at Westmead Sydney NSW Australia"},{"name":"University of Sydney Discipline of Paediatrics and Child Health Westmead NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Poulton","sequence":"additional","affiliation":[{"name":"Immunology Department Royal Children's Hospital Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Roscioli","sequence":"additional","affiliation":[{"name":"School of Women's and Children's Health University of New South Wales Sydney NSW Australia"},{"name":"Genetics Laboratory SEALS Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Immunology and Infectious Diseases Sydney Children's Hospital Sydney NSW Australia"},{"name":"School of Women's and Children's Health University of New South Wales Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/clim.2000.4842"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-5699(96)80903-0"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119858"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.05.010"}],"container-title":["International Journal of Immunogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fiji.12166","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/iji.12166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T18:45:40Z","timestamp":1696272340000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/iji.12166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,28]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/iji.12166"],"URL":"https:\/\/doi.org\/10.1111\/iji.12166","archive":["Portico"],"relation":{},"ISSN":["1744-3121","1744-313X"],"issn-type":[{"value":"1744-3121","type":"print"},{"value":"1744-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,28]]}}}