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The 2024 Update of Iuis Phenotypic Classification of Human Inborn Errors of Immunity Publisher



Bousfiha AA ; Jeddane L ; Moundir A ; Poli MC ; Aksentijevich I ; Cunninghamrundles C ; Hambleton S ; Klein C ; Morio T ; Picard C ; Puel A ; Rezaei N ; Seppanen MRJ ; Somech R Show All Authors
Authors
  1. Bousfiha AA
  2. Jeddane L
  3. Moundir A
  4. Poli MC
  5. Aksentijevich I
  6. Cunninghamrundles C
  7. Hambleton S
  8. Klein C
  9. Morio T
  10. Picard C
  11. Puel A
  12. Rezaei N
  13. Seppanen MRJ
  14. Somech R
  15. Su HC
  16. Sullivan KE
  17. Torgerson TR
  18. Tangye SG
  19. Meyts I

Source: Journal of Human Immunity Published:2025


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. © 2025 Bousfiha et al.
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