ABSTRACT
Objective To explore the clinical manifestation,laboratory findings,treatment and prog-nosis 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 sep-sis. 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.
ABSTRACT
Objective To explore the clinical phenotype, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians' knowledge of this disease. Methods Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed, and related literatures China were reviewed. Results The 2-month-11-day old boy came to our hospital due to ichthyosiform skin lesions accompanied by blood oozing in the head and feet exudatation, with severe sepsis and gastrointestinal perforation. He was died of multiple organ failure. DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G> A, p.A384> T in FOXP3 gene. His mother was a heterozygous mutation carrier, while his father was normal. Conclusions In addition to typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and growth retardation, IPEX should be considered also in infants with ichthyosiform rash and severe infection. Gene sequencing will help diagnose the disease.