Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

This report provides an updated classification of inborn errors of immunity (IEIs) involving 508 different genes and 17 phenocopies. Of these, we report 67 novel monogenic defects and 2 phenocopies due to neutralizing anti-cytokine autoantibodies or somatic mutations, which either have been discovered since the previous update (published June 2022) or were reported earlier but have been recently confirmed and/or expanded. The new additions were made after rigorous review of new genetic descriptions of IEIs by the International Union of Immunological Societies (IUIS) Expert Committee using criteria established to define IEI. Although similar pathogenic variants in one gene, in terms of both classes of mutation…

• JM
  Jeffrey Modell Foundation
• FW
  Fonds Wetenschappelijk Onderzoek

  Award: EBD-D8974-FKM
• NI
  National Institutes of Health
• NH
  National Health and Medical Research Council
• FN
  Fondo Nacional de Desarrollo Científico, Tecnológico y de Innovación Tecnológica

  Award: 1221802
• NI
  National Institute of Allergy and Infectious Diseases
• IR
  Intramural Research Program