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

• Main Authors: Ripen, Adiratna Mat, Chear, Chai Teng, Baharin, Mohd Farid, Nallusamy, Revathy, Chan, Kwai Cheng, Kassim, Asiah, Choo, Chong Ming, Wong, Ke Juin, Fong, Siew Moy, Tan, Kah Kee, Nachiappan, Jeyaseelan P., Teo, Kai Ru, Chiow, Mei Yee, Hishamshah, Munirah, Ghani, Hamidah, Muralitharan, Rikeish R., Bin Mohamad, Saharuddin
• Format: Article
• Published: Wiley 2021
• Subjects: QR180 Immunology; R Medicine
• Online Access: http://eprints.um.edu.my/34653/
• Institution: Universiti Malaya

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 stu...