{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:54:37Z","timestamp":1753869277403,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:00:00Z","timestamp":1697760000000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunity Inflam &amp;amp; Disease"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Description<\/jats:title><jats:p>We describe a 36\u2010year\u2010old male who presented as an infant with hypogammaglobulinemia and sinopulmonary infections and was initially diagnosed with common variable immunodeficiency. Genetic testing showed he was hemizygous for Btk c.240G &gt; A. This synonymous variant affecting the last nucleotide of exon 3 leads to aberrant splicing of most but not all mRNA transcripts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We demonstrated reduced BTK protein expression confirming the pathogenicity of the variant and related our findings to genotype\u2010phenotype relationship studies ina XLA caused by synonymous mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/iid3.1049","type":"journal-article","created":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T07:46:13Z","timestamp":1697787973000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigation of a synonymous mutation in <i>Btk<\/i> in a patient with agammaglobulinemia: A case report"],"prefix":"10.1002","volume":"11","author":[{"given":"Cindy","family":"Srinivasan","sequence":"first","affiliation":[{"name":"Student, Department of Medicine University of Alberta Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afshin","family":"Shameli","sequence":"additional","affiliation":[{"name":"Alberta Precision Laboratories, Calgary, Alberta, and Department of Laboratory Medicine and Pathology University of Washington Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Ritchie","sequence":"additional","affiliation":[{"name":"Division of Hematology University of Alberta Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7612-6529","authenticated-orcid":false,"given":"Adil","family":"Adatia","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Pulmonary Medicine University of Alberta Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-021-08870-5"},{"key":"e_1_2_9_3_1","first-page":"463","volume-title":"Molecular Biology of B Cells (Second Edition)","author":"Durandy A","year":"2015"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2020.03.001"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2434-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1019982206951"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/301828"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/clim.2002.5241"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2005.04.043"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.127711"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e318180bb45"}],"container-title":["Immunity, Inflammation and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/iid3.1049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T08:04:52Z","timestamp":1698912292000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/iid3.1049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/iid3.1049"],"URL":"https:\/\/doi.org\/10.1002\/iid3.1049","archive":["Portico"],"relation":{},"ISSN":["2050-4527","2050-4527"],"issn-type":[{"type":"print","value":"2050-4527"},{"type":"electronic","value":"2050-4527"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"2023-04-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1049"}}