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

Poli Harlowe, María Cecilia; Aksentijevich, Ivona; Aziz, Ahmed; Cunningham, Charlotte; Hambleton, Sophie; Klein, Christoph; Morio, Tomohiro; Picard, Capucine; Puel, Anne; Rezaei, Nima; Seppänen, Mikko; Somech, Raz; Su, Helen; Sullivan, Kathleen; Torgerson, Troy; Meyts, Isabelle; Tangye, Stuart

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

Files

Human inborn errors of immunity 2024 update on the classification from the International Union of Immunological Societies Expert Committee.pdf (4.45 MB)

Date

2025

Type:

Article

Collections

Artículos Medicina y Ciencias de la Salud

Descargas totales

0

Vistas totales

2

Métricas

Gestores bibliográficos

Authors

Poli Harlowe, María Cecilia

Aksentijevich, Ivona

Aziz, Ahmed

Cunningham, Charlotte

item.page.doiurl

https://doi.org/10.70962/jhi.20250003

URI

https://hdl.handle.net/11447/11099

item.page.accessRights

Acceso Abierto

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 du...

Citation

Poli MC, Aksentijevich I, Bousfiha AA, Cunningham-Rundles C, Hambleton S, Klein C, Morio T, Picard C, Puel A, Rezaei N, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I, Tangye SG. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. J Hum Immun. 2025 Apr 15;1(1):e20250003. doi: 10.70962/jhi.20250003

Keywords

Human inborn errors of immunity , Human inborn

Estadísticas de uso

2 1,5 1 0,5 0