The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha*, Abderrahmane Moundir, Stuart G. Tangye, Capucine Picard, Leïla Jeddane, Waleed Al-Herz, Charlotte C. Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Anne Puel, Jennifer Puck, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.

Original languageEnglish
Pages (from-to)1508-1520
Number of pages13
JournalJournal of Clinical Immunology
Issue number7
StatePublished - Oct 2022
Externally publishedYes


  • Autoinflammatory disorders
  • Classification
  • IUIS
  • Immune dysregulation
  • Inborn errors of immunity
  • Primary immune deficiency


Dive into the research topics of 'The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity'. Together they form a unique fingerprint.

Cite this