Ontology highlight
ABSTRACT:
SUBMITTER: Boisson B
PROVIDER: S-EPMC3873857 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Immunity 20131010 4
Patients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC. The mutation, located in the SEFIR domain, abolished the homotypic interaction of ACT1 with IL-17 receptors, with no effect on homodimerization. The patients' fibroblasts failed to respond to IL-17A and IL-17F, and their T cells to IL-17E. By contrast, healthy individuals homozygo ...[more]