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

Cecilia Poli, M.; Aksentijevich, Ivona; Aziz Bousfiha, Ahmed; Cunningham-Rundles, Charlotte; Hambleton, Sophie; Klein, Christoph; Morio, Tomohiro; Picard, Capucine; Puel, Anne; Rezaei, Nima; R.J. Seppänen, Mikko; Somech, Raz; C. Su, Helen; E. Sullivan, Kathleen; R. Torgerson, Troy; Meyts, Isabelle; G. Tangye, Stuart

doi:10.70962/jhi.20250003

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

Shared by NobleBlocks on Apr 15, 2025 • 12:00 AM UTC

Authors:

M. Cecilia Poli

Ivona Aksentijevich

Ahmed Aziz Bousfiha

Abstract

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 discover...

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