A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

Ripen, Adiratna Mat and Chear, Chai Teng and Baharin, Mohd Farid and Nallusamy, Revathy and Chan, Kwai Cheng and Kassim, Asiah and Choo, Chong Ming and Wong, Ke Juin and Fong, Siew Moy and Tan, Kah Kee and Nachiappan, Jeyaseelan P. and Teo, Kai Ru and Chiow, Mei Yee and Hishamshah, Munirah and Ghani, Hamidah and Muralitharan, Rikeish R. and Bin Mohamad, Saharuddin (2021) A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity. Clinical and Experimental Immunology, 206 (2). pp. 119-128. ISSN 0009-9104, DOI https://doi.org/10.1111/cei.13626.

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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 = 3), diseases of immune dysregulation (n = 3), defects in intrinsic and innate immunity (n = 3), predominantly antibody deficiencies (n = 2), combined immunodeficiencies with associated and syndromic features (n = 2) and immunodeficiencies affecting cellular and humoral immunity (n = 1). 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.

Item Type: Article
Funders: Kementerian Kesihatan Malaysia [Grant No: NMRR--16--892--31023]
Uncontrolled Keywords: Bioinformatics analysis; Genetic diagnosis; Genetic variant; Inborn errors of immunity; Whole-exome sequencing
Subjects: Q Science > QR Microbiology > QR180 Immunology
R Medicine
Divisions: Faculty of Science > Institute of Biological Sciences
Depositing User: Ms Zaharah Ramly
Date Deposited: 13 Sep 2022 08:30
Last Modified: 13 Sep 2022 08:30
URI: http://eprints.um.edu.my/id/eprint/34653

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