The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
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.
Authors
- Leïla Jeddane (ORCID: https://orcid.org/0000-0002-8647-8114)
- Kathleen E. Sullivan (ORCID: https://orcid.org/0000-0002-3577-9021)
- Abderrahmane Moundir (ORCID: https://orcid.org/0009-0002-6149-4481)
- Helen C. Su (ORCID: https://orcid.org/0000-0002-5582-9110)
- Charlotte Cunningham‐Rundles (ORCID: https://orcid.org/0000-0003-0725-0320)
- Ivona Aksentijevich (ORCID: https://orcid.org/0000-0002-6564-7214)
- Nima Rezaei (ORCID: https://orcid.org/0000-0002-3836-1827)
- M. Cecilia Poli (ORCID: https://orcid.org/0000-0001-6817-0573)
- Sophie Hambleton (ORCID: https://orcid.org/0000-0001-7954-3267)
- Isabelle Meyts (ORCID: https://orcid.org/0000-0003-1214-0302)
- Tomohiro Morio (ORCID: https://orcid.org/0000-0002-9259-1025)
- Raz Somech (ORCID: https://orcid.org/0000-0001-6648-9425)
- Ahmed Aziz Bousfiha (ORCID: https://orcid.org/0000-0002-5011-9873)
- Anne Puel (ORCID: https://orcid.org/0000-0003-2603-0323)
- Capucine Pïcard (ORCID: https://orcid.org/0000-0001-8788-5056)
- Troy R. Torgerson (ORCID: https://orcid.org/0000-0003-3489-5036)
- Stuart G. Tangye (ORCID: https://orcid.org/0000-0002-5360-5180)
- Mikko Seppänen (ORCID: https://orcid.org/0000-0001-9733-3650)
- Christoph A. Klein (ORCID: https://orcid.org/0000-0003-0956-0445)
Institutions
- Tokyo Medical and Dental University (JP)
- National Institutes of Health (US)
- Children's Hospital of Philadelphia (US)
- Universidad del Desarrollo (CL)
- University of Helsinki (FI)
- Garvan Institute of Medical Research (AU)
- Inserm (FR)
- Université Paris Cité (FR)
- Sheba Medical Center (IL)
- Helsinki University Hospital (FI)
- Hospital for Sick Children (CA)
- Clínica Alemana (CL)
- UNSW Sydney (AU)
- Clinical Research Institute (US)
- National Human Genome Research Institute (US)
- Hospital Roberto del Rio (CL)
- Allen Institute for Immunology (US)
- Université Mohammed VI des Sciences et de la Santé (MA)
- St Vincent's Clinic (AU)
- National Institute of Allergy and Infectious Diseases (US)
- Institut des Maladies Génétiques Imagine (FR)
- Tehran University of Medical Sciences (IR)
- University of Newcastle Australia (AU)
- University of Pennsylvania (US)
- Ludwig-Maximilians-Universität München (DE)
- Rockefeller University (US)
- Newcastle University (GB)
- Philadelphia University (US)
- Icahn School of Medicine at Mount Sinai (US)
- University of Hassan II Casablanca (MA)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-04-15
- DOI
- https://doi.org/10.70962/jhi.20250002
- Citations
- 84
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 66.99
Funders
- Jeffrey Modell Foundation
- CSL Behring
- Baxalta
- Fonds Wetenschappelijk Onderzoek
- National Institutes of Health
- European Research Council
- National Health and Medical Research Council
- National Institute of Allergy and Infectious Diseases