Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

TLDR

The IUIS has been updating a phenotypic classification of inborn errors of immunity since 2013, now encompassing 430 single‑gene disorders across infections, malignancies, allergies, autoimmunity, and autoinflammation, and serving as a clinician‑friendly resource. This paper presents the 2019 update of that classification, adding 65 newly identified conditions. The update includes diagnostic algorithms that use clinical and laboratory phenotypes for each of ten broad IEI categories.

Abstract

Abstract Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.