Two case reports about immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and literature review

Abstract

Objective To explore the clinical manifestation, laboratory findings, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians′ knowledge of this disease. Methods Clinical data of two cases of IPEX were retrospectively analyzed, and related literatures were reviewed. Results One of the two male children showed severe and early-onset enteropathy, another showed insulin-dependent diabetes onset.Both of them complicated with sepsis.DNA sequencing of whole-genome exon group showed a mutation in FOXP3 gene.Finally, one of the two IPEX children accepted allogeneic hematopoietic stem cell transplantation(HSCT). Another one was waiting for the treatment of HSCT. Conclusion IPEX should be considered also in infants with typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and severe recurring infections.Gene sequencing mayl help diagnose the disease.Early HSCT can improve the patients′ outcomes. Key words: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; Immuno-deficiency; FOXP3 mutation; Regulatory T cells