Autoimmune enteropathy in Schimke immunoosseous dysplasia

Am J Med Genet. 1998 Jun 5;77(5):427-30.


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.

Publication types

  • Case Reports

MeSH terms

  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / pathology
  • Cerebral Infarction / genetics
  • Child, Preschool
  • Gastrointestinal Diseases / genetics*
  • Gastrointestinal Diseases / immunology
  • Gastrointestinal Diseases / pathology
  • Growth Disorders / genetics
  • Growth Disorders / pathology
  • Humans
  • Liver / pathology
  • Male
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Renal Insufficiency / genetics
  • Renal Insufficiency / pathology