The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

TLDR

Since the 1990s, the IUIS PID expert committee has published a biennial classification of inborn errors of immunity, serving as a global reference for researchers but remaining unsuitable for bedside clinicians. We propose the revised 2017 phenotypic classification based on the 2017 IUIS Inborn Errors of Immunity Committee framework. The classification is derived from the 2017 IUIS Inborn Errors of Immunity Committee classification. The new phenotypic classification is more user‑friendly and lists 320 single‑gene inborn errors of immunity associated with diverse phenotypes such as infection, malignancy, allergy, auto‑immunity, and auto‑inflammation.

Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.