title: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature.
abstract: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a rare disorder caused by mutations of the FOXP3 gene. The FOXP3 gene encodes a DNA-binding protein of the forkhead/winged-helix family and is the central controller of the development of CD4+CD25+ regulatory T cells. CD4+CD25+ regulatory T cells help prevent autoimmune disease; a deficiency of these cells causes increased immunologic reactivity and autoimmunity. We describe a 14-year-old boy with IPEX syndrome confirmed by mutation analysis of the FOXP3 gene. The patient had chronic dermatitis and later developed bullous pemphigoid. He subsequently formed diffuse prurigo nodularis-like lesions resistant to multiple topical and systemic immunosuppressive medications. These lesions were confirmed by biopsy, direct immunofluorescence, and enzyme-linked immunosorbent assay of the 180 kd bullous pemphigoid antigen to be pemphigoid nodularis. He recently responded to rituximab, allowing discontinuation of his oral prednisone.
authors.affiliation: Department of Dermatology, University of Virginia, Charlottesville, VA 22908, USA.
authors.forename: Jamie L
authors.initials: JL
authors.lastname: McGinness
authors.forename: Mary-Margaret C
authors.initials: MM
authors.lastname: Bivens
authors.forename: Kenneth E
authors.initials: KE
authors.lastname: Greer
authors.forename: James W
authors.initials: JW
authors.lastname: Patterson
authors.forename: Frank T
authors.initials: FT
authors.lastname: Saulsbury
mesh_terms: D000293:Adolescent; D004700:Endocrine System Diseases / Q000150:complications* / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007410:Intestinal Diseases / Q000150:complications* / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D010391:Pemphigoid, Bullous / Q000150:complications* / Q000473:pathology
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors