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

Ahmed Aziz Bousfiha; Leïla Jeddane; Abderrahmane Moundir; POLI HARLOWE, MARIA CECILIA BERTA; Ivona Aksentijevich; Charlotte Cunningham-Rundles; Sophie Hambleton; Christoph Klein; Tomohiro Morio; Capucine Picard; Anne Puel; Nima Rezaei; Mikko R.J. Seppänen; Raz Somech; Helen C. Su; Kathleen E. Sullivan; Troy R. Torgerson; Stuart G. Tangye; Isabelle Meyts

doi:10.70962/jhi.20250002

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

Journal

Journal of Human Immunity

ISSN

3065-8993

Date Issued

2025-04-15

Author(s)

Ahmed Aziz Bousfiha

Leïla Jeddane

Abderrahmane Moundir

POLI HARLOWE, MARIA CECILIA BERTA

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

Ivona Aksentijevich

Charlotte Cunningham-Rundles

Sophie Hambleton

Christoph Klein

Tomohiro Morio

Capucine Picard

Anne Puel

Nima Rezaei

Mikko R.J. Seppänen

Raz Somech

Helen C. Su

Kathleen E. Sullivan

Troy R. Torgerson

Stuart G. Tangye

Isabelle Meyts

Type

journal-article

DOI

10.70962/jhi.20250002

URL

https://hdl.handle.net/123456789/12386

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.