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

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.

SUBMITTER: Bousfiha AA 

PROVIDER: S-EPMC12829316 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature