{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T22:12:35Z","timestamp":1771711955870,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ken-ichi Arai Scholarship"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Lipopolysaccharide\u2010responsive and beige\u2010like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency\u00a0(CVID), affecting 1:25,000\u20131:50,000 people worldwide. Biallelic mutations in the gene <jats:italic>LRBA<\/jats:italic> have been implicated in affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a 16\u2010year\u2010old Vietnamese, male patient with recurrent CVID symptoms including chronic diarrhea, interstitial pneumonia, cutaneous granulomatous lesions, hepatosplenomegaly, and finger clubbing. Immunological analyses and whole exome sequencing (WES) were performed to investigate phenotypic and genotypic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Immunological analyses revealed hypogammaglobulinemia and low ratios of CD4+\/CD8+ T cells. Two novel compound heterozygous stop\u2010gain mutation in <jats:italic>LRBA<\/jats:italic> were identified: c.1933C\u00a0&gt;\u00a0T (p.R645X) and c.949C\u00a0&gt;\u00a0T (p.R317X). Sanger sequencing confirmed the segregation of these variants from the intact parents. The abolished LRBA protein expression was shown by immunoblot analysis. Subsequent treatment potentially saves the child from the same immune thrombocytopenia which led to his brother's untimely death; likely caused by the same <jats:italic>LRBA<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This first report of LRBA deficiency in Vietnam expands our knowledge of the diverse phenotypes and genotypes driving CVID. Finally, the utilization of WES shows great promise as an effective diagnostic for CVID in our setting.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1216","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T13:22:39Z","timestamp":1583846559000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel compound heterozygous stop\u2010gain mutations of <i>LRBA<\/i> in a Vietnamese patient with Common Variable Immune Deficiency"],"prefix":"10.1002","volume":"8","author":[{"given":"Anh N. L.","family":"Phan","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital 1 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8950-6547","authenticated-orcid":false,"given":"Thuy T. T.","family":"Pham","sequence":"additional","affiliation":[{"name":"Functional Genomic Unit DNA Medical Technology Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nghia","family":"Huynh","sequence":"additional","affiliation":[{"name":"Department of Hematology Ho Chi Minh City University of Medicine and Pharmacy Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuan M.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital 1 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuc T. T.","family":"Cao","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital 1 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duong T.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital 1 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duc T.","family":"Le","sequence":"additional","affiliation":[{"name":"Functional Genomic Unit DNA Medical Technology Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7937-1634","authenticated-orcid":false,"given":"Chi\u2010Bao","family":"Bui","sequence":"additional","affiliation":[{"name":"Functional Genomic Unit DNA Medical Technology Ho Chi Minh City Vietnam"},{"name":"Biomedical Research Center School of Medicine, Vietnam National University HCMC Ho Chi Minh City Vietnam"},{"name":"Molecular Genetics City Children\u2019s Hospital Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0224-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.05.022"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.26772"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.10.019"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12069"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1099\/jmmcr.0.005167"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.09.025"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00720"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.12.1077"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2019.04.011"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-745174"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23835"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0446-y"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0546(09)70246-0"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.015"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2016.00220"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.04.023"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.12.896"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.7.4586"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2009-10-11-r130"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1216","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:44:42Z","timestamp":1708512282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,10]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/mgg3.1216"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1216","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,10]]},"assertion":[{"value":"2019-11-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1216"}}