Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

ABSTRACT: Primary immunodeficiency diseases (PIDs) are a group of clinically and genetically heterogeneous disorders showing ethnic and geographic diversities. Next-generation sequencing (NGS) is a comprehensive tool to diagnose PID. Although PID is common in India, data on the genetic spectrum of PIDs are limited due to financial restrictions. The study aims to characterize the clinical and genetic spectrum of PID patients in India and highlight the importance of a cost-effective targeted gene panel sequencing approach for PID in a resource-limited setting. The study includes 229 patients with clinical and laboratory features suggestive of PIDs. Mutation analysis was done by Sanger sequencing and NGS targeting a customized panel of genes. Pathogenic variants were identified in 97 patients involving

SUBMITTER: Arunachalam AK 

PROVIDER: S-EPMC7610931 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature