Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report

BACKGROUND: regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. CASE SUMMARY: gene, which has not been previously reported. The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report. CONCLUSION: gene mutation involved in IPEX. A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.