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  

作　　者：Na Su Cheng Chen Xia Zhou Guo-Da Ma Ri-Ling Chen Chuan Tian 

机构地区：[1]Department of Pediatrics,Shunde Women and Children's Hospital,Guangdong Medical University,Foshan 528300,Guangdong Province,China [2]Department of Pediatrics,Guangdong Medical University,Zhanjiang 524000,Guangdong Province,China [3]Department of Pediatric Internal Medicine,Shunde Women and Children's Hospital,Guangdong Medical University,Foshan 528300,Guangdong Province,China [4]Department of Neurology,Guangdong Medical University,Zhanjiang 524000,Guangdong Province,China [5]Maternal and Child Research Institute,Shunde Women and Children's Hospital,Guangdong Medical University,Foshan 528300,Guangdong Province,China [6]Department of Pediatric Hematology,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524000,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2020年第10期1988-1994,共7页世界临床病例杂志

摘　　要：BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional regulator for the development and function of CD4+CD25+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 We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive,as well as with hypothyroidism and nephrotic syndrome.Laboratory investigation showed increased total IgE and Treg cells,decreased free triiodothyronine(FT3)and free thyroxine(FT4),and proteinuria.Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay.Ultimately,whole exome sequencing revealed that the patient was hemizygous for the exon 5,c.542G>A(p.Ser181Asn)mutation of the FOXP3 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 We report a novel FOXP3 gene mutation involved in IPEX.A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.

关 键 词：Immune dysregulation polyendocrinopthy enteropathy X-linked syndrome Forkhead box protein 3 Mutation Refractory diarrhea Regulatory T cells Case report 

分 类 号：R725.9[医药卫生—儿科]