Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.

ABSTRACT: Inborn errors of immunity (IEIs) are rare monogenic disorders with diverse, often life-limiting manifestations. Next-generation sequencing (NGS) has transformed IEI diagnostics, but data on therapeutic impact remain limited. We conducted a multicenter retrospective study through the Clinical Immunogenomics Research Consortium of Australasia, encompassing 12 hospitals across Australia and New Zealand. Probands with confirmed monogenic IEIs diagnosed by panel, whole-exome, or whole-genome sequencing were included. Among 205 probands with pathogenic variants in 86 genes, NGS findings prompted management changes in 84%: 71.7% major and 12.2% minor. Major changes included recommendation/planning for hematopoietic stem cell transplant (40.8%), initiation of targeted therapies (39.5%), and immuno

SUBMITTER: Swamy S 

PROVIDER: S-EPMC13629484 | biostudies-literature | 2026 Nov

REPOSITORIES: biostudies-literature