Abstract：
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a serious disorder, which may comprise diabetes, thyroid disease, enteropathy, cytopenias, eczema, and other multi-system autoimmune dysfunction features. IPEX syndrome is caused by mutations in the forkhead box P3 (FOXP3) gene. Here, we report the clinical manifestations of a patient with IPEX syndrome onset in the neonatal period. A de novo mutation at exon 11 of the FOXP3 gene (c.1190G > A, p.R397Q) was found, and its main clinical manifestations included hyperglycemia and hypothyroidism. Subsequently, we comprehensively reviewed the clinical characteristics and FOXP3 mutations of 55 reported neonatal IPEX cases. The most frequent clinical presentation included symptoms of gastrointestinal involvement (n = 51, 92.7%), followed by skin-related symptoms (n = 37, 67.3%), diabetes mellitus (DM) (n = 33, 60.0%), elevated IgE (n = 28, 50.9%), hematological abnormality (n = 23, 41.8%), thyroid dysfunction (n = 18, 32.7%), and kidney-related symptoms (n = 13, 23.6%). In total, 38 variants were observed in the 55 neonatal patients. The most frequent mutation was c.1150G > A (n = 6; 10.9%), followed by c.1189C > T (n = 4; 7.3%), c.816 + 5G > A (n = 3; 5.5%), and C.1015C > G (n = 3; 5.5%), which were reported more than twice. The genotype-phenotype relationship showed that the repressor domain mutations were associated with DM (P = 0.020), and the leucine zipper mutations were associated with nephrotic syndrome (P = 0.020). The survival analysis suggested that treatment with glucocorticoids increased the survival of the neonatal patients. This literature review provides an informative reference for the diagnosis and treatment of IPEX syndrome in the neonatal period.
摘要：
免疫失调,多内分泌病,肠病,X连锁综合征（IPEX）是一种严重的疾病，可能包括糖尿病，甲状腺疾病,肠病,血细胞减少,湿疹,和其他多系统自身免疫功能障碍的特征。IPEX综合征是由叉头盒P3(FOXP3)基因突变引起的。这里,我们报告了一名在新生儿期发病的IPEX综合征患者的临床表现。FOXP3基因外显子11处的从头突变（c.1190G>A，p.R397Q)被发现，主要临床表现为高血糖和甲状腺功能减退。随后，我们全面回顾了55例报道的新生儿IPEX病例的临床特征和FOXP3突变.最常见的临床表现包括胃肠道受累的症状（n=51，92.7％），其次是皮肤相关症状（n=37，67.3%），糖尿病（DM）（n=33，60.0％），IgE升高（n=28，50.9%），血液学异常（n=23，41.8%），甲状腺功能异常（n=18，32.7%），和肾脏相关症状（n=13，23.6%）。总的来说,在55例新生儿患者中观察到38种变异。最常见的突变是c.1150G>A(n=6;10.9%),其次是c.1180.C>T（n=4；7.3%），c.816+5G>A（n=3；5.5%），和C.1015C>G(n=3；5.5%)，报告了两次以上。基因型-表型关系显示,抑制子结构域突变与DM相关(P=0.020),亮氨酸拉链突变与肾病综合征相关(P=0.020)。生存分析表明，糖皮质激素治疗可提高新生儿患者的生存率。该文献综述为新生儿期IPEX综合征的诊断和治疗提供了参考。
