title: A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
abstract: We report a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with a novel splicing mutation of the FOXP3 gene. The patient is a boy, born at 39 + 2 weeks gestation with a birth weight of 3,280 g. The family history was unremarkable. He was well until 11 months of age, when he was diagnosed with type 1 diabetes mellitus. The level of urine C-peptide was 0.58 μg/day (normal range, 44-116 μg/day). Glutamic acid decarboxylase autoantibody was not detected, but a high level of anti-insulin antibody (50 IU/mL; normal range, <5 IU/mL) was noted. This patient presented with unusual clinical features, including pure red cell aplasia, membranous glomerulopathy, and posterior reversible encephalopathy syndrome after a vaccination against influenza A H1N1 virus. The diagnosis of IPEX was made when the patient was 11 years old, which is quite late compared with typical cases.
  
  
  CONCLUSIONS
  Although IPEX syndrome is usually a disease of infancy, it should not be ruled out solely on the basis of age. IPEX presentation is so variable that it should be suspected in a male child with one or more autoimmune disorders and severe infections.
authors: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
authors: Keun Wook
authors: KW
authors: Bae
authors: Bo Eun
authors: BE
authors: Kim
authors: Jin-Ho
authors: JH
authors: Choi
authors: Joo Hoon
authors: JH
authors: Lee
authors: Young Seo
authors: YS
authors: Park
authors: Gu-Hwan
authors: GH
authors: Kim
authors: Han Wook
authors: HW
authors: Yoo
authors: Jong Jin
authors: JJ
authors: Seo
mesh_terms: D001323:Autoantibodies / Q000235:genetics*; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007410:Intestinal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology
chemical_list: D001323:Autoantibodies