{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:54:54Z","timestamp":1747191294003,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T00:00:00Z","timestamp":1700870400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Immunology"],"published-print":{"date-parts":[[2023,11,25]]},"abstract":"<jats:p>X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton\u2019s tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6\u2009months of age. A 55-year-old male with a longstanding common variable immunodeficiency diagnosis on infusion therapy presented to the clinic with cutaneous T-cell lymphoma, which inspired overall repeat evaluation. Immunoglobulin levels and lymphocyte markers, family history, and genetic testing prompted a true diagnosis of XLA and novel mutation in the BTK gene. Disease-associated mutations have been noted in all five domains of BTK, with missense variants most commonly cited among the 100s of reported genetic alterations. The BTK protein is expressed in hematopoietic lineages and plasma cells, with the exception of T lymphocytes. Disruption in the protein function or absence of BTK halts normal B cell development at the pre-B transitional cell stage and induces premature apoptosis. We present the first reported case of a novel hemizygous BTK c.1492C\u2009&gt;\u2009G mutation in a patient causing XLA.<\/jats:p>","DOI":"10.1155\/2023\/6698913","type":"journal-article","created":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T19:20:06Z","timestamp":1700940006000},"page":"1-3","source":"Crossref","is-referenced-by-count":1,"title":["Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6842-8164","authenticated-orcid":true,"given":"Amanpreet","family":"Kalkat","sequence":"first","affiliation":[{"name":"University Hospitals of Cleveland, 5915 Landerbrook Dr, Mayfield Heights, OH 44124, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4836-5533","authenticated-orcid":true,"given":"Olivia","family":"Humpel","sequence":"additional","affiliation":[{"name":"Lake Erie College of Osteopathic Medicine, 5000 Lakewood Ranch Boulevard, Bradenton, FL 34211, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8296-3588","authenticated-orcid":true,"given":"Robert","family":"Hostoffer","sequence":"additional","affiliation":[{"name":"University Hospitals of Cleveland, 5915 Landerbrook Dr, Mayfield Heights, OH 44124, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1086\/301828"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1186\/s12943-018-0779-z"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20410"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.612323"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1186\/1476-7961-6-5"},{"issue":"3","key":"6","first-page":"570","article-title":"Combination therapy with tiotropium and formoterol in chronic obstructive pulmonary disease: effect on exercise tolerance","volume":"17","author":"A. 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D\u2019Urzo","year":"2001","journal-title":"European Respiratory Journal"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2007.08.019"}],"container-title":["Case Reports in Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2023\/6698913.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2023\/6698913.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2023\/6698913.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T19:20:10Z","timestamp":1700940010000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crii\/2023\/6698913\/"}},"subtitle":[],"editor":[{"given":"Alessandro","family":"Plebani","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,11,25]]},"references-count":7,"alternative-id":["6698913","6698913"],"URL":"https:\/\/doi.org\/10.1155\/2023\/6698913","relation":{},"ISSN":["2090-6617","2090-6609"],"issn-type":[{"type":"electronic","value":"2090-6617"},{"type":"print","value":"2090-6609"}],"subject":[],"published":{"date-parts":[[2023,11,25]]}}}