Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.
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.
Zhan
Hong
H
Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.
Sinclair
Jo
J
Adams
Stuart
S
Cale
Catherine M
CM
Murch
Simon
S
Perroni
Lucia
L
Davies
Graham
G
Amrolia
Persis
P
Qasim
Waseem
W
D005500:Follow-Up Studies; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D015870:Gene Expression; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D006085:Graft Survival; D006801:Humans; D007223:Infant; D008297:Male; D036102:Peripheral Blood Stem Cell Transplantation / Q000379:methods*; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D016133:Polymerase Chain Reaction; D011504:Protein-Losing Enteropathies / Q000235:genetics / Q000276:immunology / Q000628:therapy; D018570:Risk Assessment; D013577:Syndrome; D050378:T-Lymphocytes, Regulatory / Q000276:immunology* / Q000378:metabolism; D014184:Transplantation, Homologous; D016896:Treatment Outcome
D051858:Forkhead Transcription Factors