Cargando…
Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report
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 nove...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847221/ https://www.ncbi.nlm.nih.gov/pubmed/35186001 http://dx.doi.org/10.3389/fgene.2021.752775 |
_version_ | 1784652006886998016 |
---|---|
author | Ke, Ruijuan Zhu, Ying Deng, Fang Xu, Daliang |
author_facet | Ke, Ruijuan Zhu, Ying Deng, Fang Xu, Daliang |
author_sort | Ke, Ruijuan |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8847221 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88472212022-02-17 Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report Ke, Ruijuan Zhu, Ying Deng, Fang Xu, Daliang Front Genet Genetics 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. Frontiers Media S.A. 2022-02-02 /pmc/articles/PMC8847221/ /pubmed/35186001 http://dx.doi.org/10.3389/fgene.2021.752775 Text en Copyright © 2022 Ke, Zhu, Deng and Xu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Ke, Ruijuan Zhu, Ying Deng, Fang Xu, Daliang Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title | Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title_full | Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title_fullStr | Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title_full_unstemmed | Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title_short | Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report |
title_sort | renal involvement in ipex syndrome with a novel mutation of foxp3: a case report |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847221/ https://www.ncbi.nlm.nih.gov/pubmed/35186001 http://dx.doi.org/10.3389/fgene.2021.752775 |
work_keys_str_mv | AT keruijuan renalinvolvementinipexsyndromewithanovelmutationoffoxp3acasereport AT zhuying renalinvolvementinipexsyndromewithanovelmutationoffoxp3acasereport AT dengfang renalinvolvementinipexsyndromewithanovelmutationoffoxp3acasereport AT xudaliang renalinvolvementinipexsyndromewithanovelmutationoffoxp3acasereport |