%0 Case Reports
%T Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report.
%A Ke R
%A Zhu Y
%A Deng F
%A Xu D
%J Front Genet
%V 12
%N 0
%D 2021
%M 35186001
%F 4.772
%R 10.3389/fgene.2021.752775
%X The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disease characterized by multiple immune disorders. Different mutations of the FOXP3 gene may lead to distinct clinical manifestations. Here, we present a rare case of IPEX syndrome caused by a novel variant of FOXP3. Clinical manifestations include autoimmune hemolysis, bronchiectasis, diarrhea, and proteinuria but without diabetes or other endocrine disorders. The diagnosis of IPEX syndrome was confirmed by whole-exon sequencing. Supportive treatment did not ameliorate the patient's symptoms, while immunosuppressive therapy showed a promising efficacy. The patient we reported will improve the understanding of renal manifestations in IPEX syndrome.