{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T07:43:46Z","timestamp":1777880626278,"version":"3.51.4"},"reference-count":34,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medicine"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Lymphocyte subset enumeration test and whole exome sequencing were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We identified a compound heterozygous CR2 mutation (c.1916G&gt;A and c.2012G&gt;A) in both patients. These variants were then confirmed using Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in CR2.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2050312120922652","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T04:58:13Z","timestamp":1590123493000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole exome sequencing identifies compound heterozygous variants of\n                    <i>CR2<\/i>\n                    gene in monozygotic twin patients with common variable immunodeficiency"],"prefix":"10.1177","volume":"8","author":[{"given":"Adiratna","family":"Mat Ripen","sequence":"first","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1957-8537","authenticated-orcid":false,"given":"Hamidah","family":"Ghani","sequence":"additional","affiliation":[{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chai Teng","family":"Chear","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei Yee","family":"Chiow","sequence":"additional","affiliation":[{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharifah Nurul Husna","family":"Syed Yahya","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asiah","family":"Kassim","sequence":"additional","affiliation":[{"name":"Paediatric Institute, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saharuddin Bin","family":"Mohamad","sequence":"additional","affiliation":[{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia"},{"name":"Centre of Research in Systems Biology, Structural Bioinformatics and Human Digital Imaging (CRYSTAL), University of Malaya, Kuala Lumpur, 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