Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is an inherited syndrome of early-onset systemic autoimmunity and the prototype of immune dysregulatory disorders. It is caused by mutations of forkhead box p3 (FOXP3) gene (Xp11.23), encoding a key transcription factor for natural regulatory T (nTreg) cells.1 Treg cell dysfunction leads to severe multi-organ autoimmune phenomena including enteropathy, dermatitis, endocrinopathy, and other organ-specific diseases.2 Patients often present early in infancy and, without treatment, usually die in the first years of life.