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Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report.

ABSTRACT: 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.

SUBMITTER: Ke R

PROVIDER: S-EPMC8847221 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report.

Ke Ruijuan R Zhu Ying Y Deng Fang F Xu Daliang D

Frontiers in genetics 20220202

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 IP ...[more]

PMID: 35186001

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