title: Autoimmune enteropathy in Schimke immunoosseous dysplasia.
abstract: The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.
authors.affiliation: Department of Clinical Genetics, Helsinki University Central Hospital, Finland. ilkka.kaitila@huch.fi
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: E
authors.initials: E
authors.lastname: Savilahti
authors.forename: T
authors.initials: T
authors.lastname: Ormälä
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics* / Q000473:pathology; D002544:Cerebral Infarction / Q000235:genetics; D002675:Child, Preschool; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D051437:Renal Insufficiency / Q000235:genetics / Q000473:pathology