{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T19:23:13Z","timestamp":1784143393380,"version":"3.55.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T00:00:00Z","timestamp":1638835200000},"content-version":"vor","delay-in-days":147,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013885","name":"Kementerian Kesihatan Malaysia","doi-asserted-by":"publisher","award":["NMRR-16-892-31023"],"award-info":[{"award-number":["NMRR-16-892-31023"]}],"id":[{"id":"10.13039\/501100013885","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the normal development and function of the immune system. The phenotypical and genetic heterogeneity of IEI have made their diagnosis challenging. Hence, whole-exome sequencing (WES) was employed in this pilot study to identify the genetic etiology of 30 pediatric patients clinically diagnosed with IEI. The potential causative variants identified by WES were validated using Sanger sequencing. Genetic diagnosis was attained in 46.7% (14 of 30) of the patients and categorized into autoinflammatory disorders (n\u00a0=\u00a03), diseases of immune dysregulation (n\u00a0=\u00a03), defects in intrinsic and innate immunity (n\u00a0=\u00a03), predominantly antibody deficiencies (n\u00a0=\u00a02), combined immunodeficiencies with associated and syndromic features (n\u00a0=\u00a02) and immunodeficiencies affecting cellular and humoral immunity (n\u00a0=\u00a01). Of the 15 genetic variants identified, two were novel variants. Genetic findings differed from the provisional clinical diagnoses in seven cases (50.0%). This study showed that WES enhances the capacity to diagnose IEI, allowing more patients to receive appropriate therapy and disease management.<\/jats:p>","DOI":"10.1111\/cei.13626","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T09:35:46Z","timestamp":1622540146000},"page":"119-128","source":"Crossref","is-referenced-by-count":18,"title":["A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity"],"prefix":"10.1093","volume":"206","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5690-8008","authenticated-orcid":false,"given":"Adiratna Mat","family":"Ripen","sequence":"first","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health , Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chai Teng","family":"Chear","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health , Selangor, Malaysia"},{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya , Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohd Farid","family":"Baharin","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health , Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revathy","family":"Nallusamy","sequence":"additional","affiliation":[{"name":"Pediatric Department, Penang General Hospital, Ministry of Health , Penang, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwai Cheng","family":"Chan","sequence":"additional","affiliation":[{"name":"Pediatric 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Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kah Kee","family":"Tan","sequence":"additional","affiliation":[{"name":"Pediatric Department, Tuanku Ja'afar Hospital, Ministry of Health , Seremban, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeyaseelan P","family":"Nachiappan","sequence":"additional","affiliation":[{"name":"Pediatric Department, Raja Permaisuri Bainun Hospital, Ministry of Health , Perak, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Ru","family":"Teo","sequence":"additional","affiliation":[{"name":"Pediatric Department, Sultan Ismail Johor Bahru Hospital, Ministry of Health , Johor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei Yee","family":"Chiow","sequence":"additional","affiliation":[{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya , Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munirah","family":"Hishamshah","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health , Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidah","family":"Ghani","sequence":"additional","affiliation":[{"name":"Institute of Biological Sciences, Faculty of Science, University of Malaya , Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikeish R","family":"Muralitharan","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health , Selangor, Malaysia"},{"name":"Hypertension Research Laboratory, School of Biological Sciences, Faculty of Science, Monash University , Melbourne, Victoria, 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