Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

ABSTRACT: Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study. The application of next-generation sequencing (NGS) as a diagnostic technique has given rise to an ever-increasing identification of IEI-monogenic causes, thus improving the diagnostic yield and facilitating the possibility of perso

SUBMITTER: Segura-Tudela A 

PROVIDER: S-EPMC10873437 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature