“The 2024 update of IUIS phenotypic classification of human inborn errors of immunity” (2025), by Ahmed Aziz Bousfiha et al. Immunology and Microbiology research paper. Original abstract below, unchanged. A free PDF is available.

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

Ahmed Aziz Bousfiha, Leïla Jeddane, Abderrahmane Moundir et al. · March 13, 2025 · Immunology and Microbiology

Abstract

Here, we report the 2024 update of the phenotypic classification by the International Union of Immunological Societies (IUIS) expert committee (EC) on inborn errors of immunity (IEI), which accompanies and complements the 2024 genotypic classification. The aim of this classification is to help diagnosis for clinicians at the bedside and focuses on clinical features and basic laboratory phenotypes of specific IEI. In this update, 559 IEI are described, including 67 novel monogenic defects and 2 new phenocopies. This phenotypic classification is presented in the form of decision trees when possible, with essential clinical or immunological phenotype entries.

Free PDF DOI: 10.70962/jhi.20250002