Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

ABSTRACT: Inborn errors of immunity (IEI) number more than 500 diseases, with most affected patients being children. Their precise diagnosis is hampered by overlapping phenotypes, and by their ample and varied phenotypic spectrum. We analyzed the contribution of next generation sequencing to the diagnosis of IEI in a cohort of 157 children in a referral hospital in Mexico City. Following the classification of the International Union of Immunological Societies (IUIS), patients were assigned to an IEI group before sequencing, or to an "undefined" group, if it was not possible to assign them to any of them. Patients were again classified in the IUIS groups after sequencing. The diagnostic yield was 32.48%. Before sequencing, the largest group was comprised by patients that could not be assigned to a sp

SUBMITTER: Godinez-Zamora GF 

PROVIDER: S-EPMC12580210 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature