{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T00:31:12Z","timestamp":1773448272517,"version":"3.50.1"},"reference-count":8,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,5,31]]},"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Barth syndrome (BTHS) is an X linked recessive disorder caused by a mutation in the tafazzin (TAZ) gene classically associated with the triad of neutropaenia and cardiac and skeletal myopathies. Here we present a case of BTHS in a 2-month-old male patient found to have a novel variant of the TAZ gene (hemizygous c.639G&gt;A) leading to early termination of the tafazzin protein (p.Trp213Ter) with presumed loss of function. Our patient was found to have dilated cardiomyopathy, cyclic neutropaenia and growth delays, which in combination with genetic work-up confirmed the diagnosis of BTHS. He also experienced repeated bacterial and viral infections, prompting an immunological work-up which revealed persistent B cell lymphopaenia and hypogammaglobulinaemia. He ultimately required subcutaneous immunoglobulin replacement and GM-CSF for ongoing hypogammaglobulinaemia and neutropaenia. To our knowledge, this case is the first report of BTHS associated with B cell lymphopaenia and hypogammaglobulinaemia.<\/jats:p>","DOI":"10.1136\/bcr-2022-249254","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T12:00:39Z","timestamp":1655899239000},"page":"e249254","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome"],"prefix":"10.1136","volume":"15","author":[{"given":"Elizabeth","family":"Kudlaty","sequence":"first","affiliation":[{"name":"Allergy and Immunology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neha","family":"Agnihotri","sequence":"additional","affiliation":[{"name":"Allergy and Immunology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amer","family":"Khojah","sequence":"additional","affiliation":[{"name":"Pediatrics, Umm Al-Qura University College of Medicine, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,6,22]]},"reference":[{"key":"2025082708012773000_15.6.e249254.1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"2025082708012773000_15.6.e249254.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31372"},{"key":"2025082708012773000_15.6.e249254.3","doi-asserted-by":"crossref","DOI":"10.3390\/jdb8020010","article-title":"Role of Tafazzin in Mitochondrial Function, Development and Disease","volume":"8","author":"Chin","year":"2020","journal-title":"J Dev Biol"},{"key":"2025082708012773000_15.6.e249254.4","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-23"},{"key":"2025082708012773000_15.6.e249254.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35609"},{"key":"2025082708012773000_15.6.e249254.6","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1080\/15227950500405429","article-title":"Clinicopathologic conference: Barth syndrome","volume":"24","author":"Huhta","year":"2005","journal-title":"Fetal Pediatr Pathol"},{"key":"2025082708012773000_15.6.e249254.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80289-6"},{"key":"2025082708012773000_15.6.e249254.8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-70"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249254","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:01:33Z","timestamp":1756306893000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":8,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6,22]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1136\/bcr-2022-249254"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249254","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]}}}