Dysregulated germinal center reaction with expanded T follicular helper cells in autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy lymph nodes

• DOI: 10.1016/j.jaci.2023.12.004
• Publication Date: 2023-12-19T16:39:57Z
• Authors: Iivo Hetemäki; Joona Sarkkinen; Nelli Heikkilä; Karen Drechsel; Mikko I. Mäyränpää; Anniina Färkkilä; Saila Laakso; Outi Mäkitie; T. Petteri Arstila; Eliisa Kekäläinen
• Keywords: Immunophenotyping

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, also called APS-1) is an inborn error of immunity with clear signs B-cell autoimmunity such as neutralizing anti-IFN antibodies. In APECED, mutations in the AIRE gene impair thymic negative selection T cells. The resulting T-cell alterations may then cause dysregulation responses. However, no analysis interactions and B cells germinal centers (GCs) patients' secondary lymphatic tissues has been reported.