Update on inborn errors of immunity.

Abstract

Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity (IEI). In a field where fundamental molecular biology, genetics, immune signaling and clinical care are tightly intertwined, 2022-2024 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe COVID-19 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly impact on treatment outcomes, either through an earlier and more precise diagnosis, or through implementation of novel, personalized treatment. As the field is growing rapidly, awareness, communication and collaboration are key to improving treatment outcomes.