title: Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
abstract: We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).
authors.affiliation: Department of Dermatology, Son Espases University Hospital, Palma de Mallorca, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Martín-Santiago
authors.forename: Juan A
authors.initials: JA
authors.lastname: Hervás
authors.forename: Daniel
authors.initials: D
authors.lastname: Hervás
authors.forename: Antonio
authors.initials: A
authors.lastname: Rosell
authors.forename: María
authors.initials: M
authors.lastname: Caimari
authors.forename: Juan C
authors.initials: JC
authors.lastname: de Carlos
authors.forename: Nuria
authors.initials: N
authors.lastname: Matamoros
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital; D003967:Diarrhea; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy; D051858:Forkhead Transcription Factors / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007154:Immune System Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy / Q000151:congenital; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors