PDF(Pubmed)
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.
摘要：
免疫失调,多内分泌病,肠病,X连锁（IPEX）综合征是一种罕见的遗传性疾病，其特征是多种免疫疾病。FOXP3基因的不同突变可能导致不同的临床表现。这里,我们介绍了一例罕见的由FOXP3新变种引起的IPEX综合征.临床表现包括自身免疫性溶血，支气管扩张,腹泻,和蛋白尿，但没有糖尿病或其他内分泌紊乱。通过全外显子测序证实了IPEX综合征的诊断。支持性治疗不能改善患者的症状，而免疫抑制疗法显示出有希望的疗效。我们报告的患者将提高对IPEX综合征肾脏表现的认识。
