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X 连锁免疫失调、多内分泌腺病、肠病综合征在两兄妹中的表现：相同突变但起病时临床表现不同。

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset.

机构信息

Karadeniz Technical University Faculty of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey

Karadeniz Technical University Faculty of Medicine, Department Pediatric Allergy and Immunology, Trabzon, Turkey

出版信息

J Clin Res Pediatr Endocrinol. 2022 Aug 25;14(3):361-365. doi: 10.4274/jcrpe.galenos.2021.2021.0005. Epub 2021 May 28.

DOI:10.4274/jcrpe.galenos.2021.2021.0005
PMID:34044499
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9422912/
Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.

摘要

免疫调节紊乱、多内分泌腺病、肠炎、X 连锁（IPEX）综合征是一种由 基因突变引起的早发型系统性自身免疫遗传疾病。肠炎、内分泌病和皮肤表现被认为是 IPEX 综合征的经典三联征。然而，IPEX 综合征患者表现出多种表型，包括危及生命的多器官自身免疫。在这里，我们报告了两例具有相同半合子突变的 IPEX 综合征同胞患者，但疾病发病时的症状类型不同。

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本文引用的文献

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.免疫调节紊乱、多内分泌腺病、肠病、X 连锁（IPEX）综合征：系统评价。
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Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.173 例免疫失调、多内分泌腺病、肠病、X 连锁（IPEX）综合征表型患者的临床、免疫学和分子异质性。
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Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.免疫失调、多内分泌腺病、肠病、X 连锁综合征的临床异质性：一项法国多中心回顾性研究。
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4
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.导致早发胰岛素依赖型糖尿病但无其他免疫失调、多内分泌腺病、肠病、X 连锁综合征特征的 FOXP3 突变。
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