Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother

Clin Immunol. 2010 Oct;137(1):178-80. doi: 10.1016/j.clim.2010.07.006. Epub 2010 Aug 14.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies / blood
  • Autoantibodies / blood
  • Fatal Outcome
  • Forkhead Transcription Factors / deficiency
  • Forkhead Transcription Factors / genetics*
  • Forkhead Transcription Factors / metabolism
  • Gene Expression / genetics*
  • Genetic Diseases, X-Linked / blood
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Hypothyroidism / blood
  • Infant
  • Intestinal Diseases / blood
  • Intestinal Diseases / genetics
  • Intestinal Diseases / pathology
  • Intestinal Diseases / therapy
  • Introns / genetics
  • Leukocytes, Mononuclear / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Lymphocyte Count
  • Male
  • Mutation / genetics
  • Polyendocrinopathies, Autoimmune / blood
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / pathology
  • Syndrome
  • T-Lymphocytes, Regulatory / cytology
  • T-Lymphocytes, Regulatory / metabolism
  • Twins / genetics*

Substances

  • Antibodies
  • Autoantibodies
  • FOXP3 protein, human
  • Forkhead Transcription Factors