Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

TLDR

Next‑generation sequencing accelerates discovery of novel and known gene defects, expands phenotypic understanding, and enables gene‑specific therapies. The study updates the classification of inborn errors of immunity/primary immunodeficiencies, as compiled by the International Union of Immunological Societies Expert Committee. The report catalogs clinical and laboratory features of 430 inborn errors of immunity, covering 64 gene defects newly identified or further characterized since the 2018 update. The updated classification enhances understanding of disease mechanisms and serves as a valuable resource for molecular diagnosis and research into inborn errors of immunity.

Abstract

Abstract We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.