{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T07:43:50Z","timestamp":1778226230363,"version":"3.51.4"},"reference-count":0,"publisher":"Codon Publications","issue":"2","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["aei"],"abstract":"<jats:p>Introduction and objectives: X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton\u2019s tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy.\nPatients: We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years.\nResults: Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A &gt; T, p.His143Leu).\nConclusion: To our knowledge, c.428 A &gt; T has not been reported in the BTK gene.<\/jats:p>","DOI":"10.15586\/aei.v49i2.62","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T07:19:55Z","timestamp":1614669595000},"page":"80-83","source":"Crossref","is-referenced-by-count":5,"title":["Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male"],"prefix":"10.15586","volume":"49","author":[{"given":"Zoha","family":"Shaka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helia","family":"Mojtabavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Rayzan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samaneh","family":"Zoghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sepideh","family":"Shahkarami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jimenez","family":"Heredia Raul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iraj","family":"Sedighi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaan","family":"Boztug","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6228","published-online":{"date-parts":[[2021,3,1]]},"container-title":["Allergologia et Immunopathologia"],"original-title":[],"link":[{"URL":"http:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/62\/258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/62\/259","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/62\/260","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.all-imm.com\/index.php\/aei\/article\/download\/62\/258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T07:19:53Z","timestamp":1614755993000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.all-imm.com\/index.php\/aei\/article\/view\/62"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,1]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,3,1]]}},"URL":"https:\/\/doi.org\/10.15586\/aei.v49i2.62","relation":{},"ISSN":["0301-0546"],"issn-type":[{"value":"0301-0546","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,1]]}}}