[HTML][HTML] Defective regulatory and effector T cell functions in patients with FOXP3 mutations

R Bacchetta, L Passerini, E Gambineri… - The Journal of …, 2006 - Am Soc Clin Investig
R Bacchetta, L Passerini, E Gambineri, M Dai, SE Allan, L Perroni, F Dagna-Bricarelli…
The Journal of clinical investigation, 2006Am Soc Clin Investig
Genetic defects in the transcription factor forkhead box protein P3 (Foxp3) cause immune
dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX). IPEX is thought to be due
to a defect in naturally arising CD4+ Tregs. In this issue of the JCI, Bacchetta and colleagues
demonstrate that patients with IPEX and missense mutations in Foxp3 provide insight into
the role of various domains of Foxp3 in the development and function of Tregs (see the
related article beginning on page 1713).
Genetic defects in the transcription factor forkhead box protein P3 (Foxp3) cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX). IPEX is thought to be due to a defect in naturally arising CD4+ Tregs. In this issue of the JCI, Bacchetta and colleagues demonstrate that patients with IPEX and missense mutations in Foxp3 provide insight into the role of various domains of Foxp3 in the development and function of Tregs (see the related article beginning on page 1713).
The Journal of Clinical Investigation