{Reference Type}: Case Reports
{Title}: Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report.
{Author}: Ke R;Zhu Y;Deng F;Xu D;
{Journal}: Front Genet
{Volume}: 12
{Issue}: 0
{Year}: 2021
{Factor}: 4.772
{DOI}: 10.3389/fgene.2021.752775
{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.