Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome

Pediatrics. 2008 Apr;121(4):e998-1002. doi: 10.1542/peds.2007-1863. Epub 2008 Mar 3.

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome is a rare X-linked disorder that usually presents in early childhood with immune enteropathy, diabetes mellitus, and other autoimmune complications. The disease is caused by mutations in the forkhead box P3 gene, a transcription factor that is essential for the development and function of regulatory T cells. This population of cells plays an essential role in controlling immune responses and preventing autoimmunity. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome is often initially treated with immunosuppressive drugs, but only allogeneic hematopoietic stem cell transplantation has offered the possibility of cure. We recently performed an unrelated donor transplant in a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome by using a reduced-intensity conditioning regimen. This transplant provided a rare opportunity to gain valuable insight into the regeneration of the immune system after transplantation. Clinical recovery was associated with the emergence of regulatory T cell populations, the majority of which expressed memory phenotype markers and raised important questions about the origin and longevity of the FOXP3(+) regulatory T cell pool.

Publication types

  • Case Reports

MeSH terms

  • Follow-Up Studies
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / metabolism*
  • Gene Expression
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / immunology
  • Genetic Diseases, X-Linked / therapy*
  • Graft Survival
  • Humans
  • Infant
  • Male
  • Peripheral Blood Stem Cell Transplantation / methods*
  • Polyendocrinopathies, Autoimmune / diagnosis*
  • Polyendocrinopathies, Autoimmune / genetics
  • Polyendocrinopathies, Autoimmune / therapy*
  • Polymerase Chain Reaction
  • Protein-Losing Enteropathies / genetics
  • Protein-Losing Enteropathies / immunology
  • Protein-Losing Enteropathies / therapy
  • Risk Assessment
  • Syndrome
  • T-Lymphocytes, Regulatory / immunology*
  • T-Lymphocytes, Regulatory / metabolism
  • Transplantation, Homologous
  • Treatment Outcome

Substances

  • Forkhead Transcription Factors