Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells
TR Torgerson, HD Ochs - Journal of Allergy and Clinical Immunology, 2007 - Elsevier
The rare X-linked disorder immune dysregulation, polyendocrinopathy, enteropathy, X-
linked (IPEX) and its murine counterpart scurfy have provided important new insights into the
essential role of regulatory T cells (Treg) in maintaining tolerance to self-antigens. Mutations
of the FOXP3 gene, identified in patients with IPEX, have helped pinpoint key structural
domains of the protein that are essential for its function as a transcriptional regulator.
Ongoing work using these and associated models has begun to elucidate factors important …
linked (IPEX) and its murine counterpart scurfy have provided important new insights into the
essential role of regulatory T cells (Treg) in maintaining tolerance to self-antigens. Mutations
of the FOXP3 gene, identified in patients with IPEX, have helped pinpoint key structural
domains of the protein that are essential for its function as a transcriptional regulator.
Ongoing work using these and associated models has begun to elucidate factors important …