National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Department of Hematological Oncology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Front Immunol. 2022 Aug 24;13:972746. doi: 10.3389/fimmu.2022.972746. eCollection 2022.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulatory system caused by forkhead box P3 () mutations. Abnormal numbers or functions of regulatory T (Treg) cells account for the various autoimmune symptoms. We aimed to explore the molecular genetics and phenotypic spectra of patients with atypical IPEX syndrome in China.
We analyzed the molecular, clinical and immune phenotype characteristics of five Chinese patients with mutations.
We summarized the molecular and phenotypic features of five patients with mutations, including two novel mutations. Four of the five patients displayed atypical phenotypes, and one developed immune-related peripheral neuropathy. Three of the five patients showed normal frequencies of Treg cells, but the proportions of subsets of Treg cells, CD4 T cells and B cells were out of balance.
Our report broadens the understanding of the clinical features of atypical IPEX syndrome. Our detailed analyses of the immunological characteristics of these patients enhance the understanding of the possible mechanisms underlying the clinical manifestations.
免疫调节、多内分泌腺病、肠病、X 连锁（IPEX）综合征是一种罕见的免疫调节系统疾病，由叉头框 P3（FOXP3）基因突变引起。调节性 T（Treg）细胞数量或功能异常导致各种自身免疫症状。本研究旨在探讨中国不典型 IPEX 综合征患者的分子遗传学和表型谱。
我们分析了 5 例携带 突变的中国患者的分子、临床和免疫表型特征。
我们总结了 5 例携带 突变患者的分子和表型特征，包括 2 种新突变。5 例患者中有 4 例表现为不典型表型，其中 1 例发生免疫相关性周围神经病。5 例患者中有 3 例 Treg 细胞频率正常，但 Treg 细胞亚群、CD4 T 细胞和 B 细胞的比例失衡。
本研究拓宽了对不典型 IPEX 综合征临床特征的认识。我们对这些患者免疫特征的详细分析增强了对临床表现可能机制的理解。
