Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

Authors: Wayne Bainter, Vassilios Lougaris, Jacqueline G. Wallace, Yousef Badran, Rodrigo Hoyos-Bachiloglu, Zachary Peters, Hazel Wilkie, Mrinmoy Das, Erin Janssen, Abdallah Beano, Khaoula Ben Farhat, Christy Kam, Luisa Bercich, Paolo Incardona, Vincenzo Villanacci, Maria Pia Bondioni, Antonella Meini, Manuela Baronio, Phammela Abarzua, Silvia Parolini, Giovanna Tabellini, Stefano Maio, Birgitta Schmidt, Jeffrey D. Goldsmith, George Murphy, Georg Hollander, Alessandro Plebani, Janet Chou, Raif S. Geha

Published: 2021-09-17

DOI: 10.1126/sciimmunol.abf6723

Source: Full article

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Abstract

A mutation in human IKKα compromises noncanonical NF-κB signaling resulting in primary immunodeficiency associated with autoimmunity.