Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)
Year: 2021
Type: article
Abstract: infection. In addition, these mice demonstrate a severe reduction in medullary thymic epithelial cells, impaired thymocyte negative selection, a restricted TCRVβ repertoire, a selective expansion of potentially autoreactive T cell clones, a decreased frequency of regulatory T cells, and infiltration of liver, pancreas, and lung by activated T cells coinciding with organ damage. Hence, this study identifies IKKα deficiency as a previously undescribed cause of primary immunodeficiency with associated autoimmunity.
Source: Science Immunology
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
Institutions: Boston Children's Hospital, Harvard University, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, University of Brescia, Brigham and Women's Hospital, University of Oxford, MRC Weatherall Institute of Molecular Medicine, University of Basel, ETH Zurich, University Children’s Hospital Basel
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3201453503