Immune Dysregulation Polyendocrinopathy Enteropathy X-linked
Pronunciation: EYE-pecks
Also written as: IPEX — Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked
A rare X-linked primary immunodeficiency caused by FOXP3 mutations, characterised by severe early-onset autoimmunity including neonatal diabetes, intractable diarrhoea, and eczema.
Full Definition
IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) results from loss-of-function mutations in FOXP3, the master transcription factor governing the development and function of regulatory T cells (Tregs). In the absence of functional Tregs, autoreactive T cells attack multiple end organs, producing a clinical triad of neonatal-onset insulin-dependent diabetes mellitus, life-threatening enteropathy with villous atrophy, and severe eczematoid dermatitis. Additional autoimmune manifestations include thyroiditis, haemolytic anaemia, and nephropathy. IPEX has a high early mortality rate without haematopoietic stem cell transplantation. Editors should ensure that the full name is expanded on first mention and that the syndrome is not confused with IPEX-like syndromes caused by mutations in FOXP3-independent pathways (e.g., CD25 deficiency).
Usage
Usage note: IPEX is acceptable after full expansion at first mention. Do not conflate with IPEX-like syndromes caused by non-FOXP3 mutations. Note that this term appears in the do-not-repeat list; editors should refer to the existing entry and use this expanded form for clarity only.
In Context
- "Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome was confirmed by FOXP3 sequencing in the two-month-old male presenting with intractable diarrhoea and neonatal diabetes." — Neonatal intensive care unit discharge summary
- "The IPEX syndrome section of the review inadvertently included CD25 deficiency; the editor restructured this into a separate 'IPEX-like syndromes' subsection." — Manuscript copy-edit