Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.
Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.
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DOI：
10.2147/jir.s280953
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发表时间：
2021
影响因子：
4.5
通讯作者：
Kong XF
中科院分区：
文献类型：
--
作者：
Chung H;Green PHR;Wang TC;Kong XF
唐氏综合征（Down syndrome，DS）是一种独特的遗传性疾病，其21号染色体长臂上携带有6个干扰素受体（interferon receptor，IFN-R）基因中的4个。在这篇综述中，我们分析了这种干扰素病在DS的潜在临床和免疫学影响。我们进行了一项文献综述，以探索DS患者相对于普通人群（有或无医源性干扰素暴露）的乳糜泻、1型糖尿病、甲状腺功能障碍、皮肤粘膜表现、感染性疾病（包括COVID-19）和阿尔茨海默病的流行病学和风险。我们分析了免疫表型数据和目前的实验证据，IFN-R的表达，组成性JAK-STAT激活，和ISG过度表达在DS。尽管缺乏直接证据表明，这种轻微的干扰素病直接与DS患者的疾病有关，但我们强调了未来的挑战和方向，可以更清楚地确定干扰素病对DS中各种免疫相关疾病的生物学影响。
Down syndrome (DS) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (IFN-R) genes on its long arm. Recent studies reporting higher levels of interferon-stimulated gene (ISG) expression in primary immune cells studied ex vivo have suggested that the additional copies of the IFN-R genes in DS result in mild interferonopathy. In this review, we analyze the potential clinical and immunological impacts of this interferonopathy in DS. We performed a literature review to explore the epidemiology and risks of celiac disease, type 1 diabetes, thyroid dysfunction, mucocutaneous manifestations, infectious diseases (including COVID-19), and Alzheimer’s disease in individuals with DS relative to the general population with or without iatrogenic exposure to interferons. We analyzed immunophenotyping data and the current experimental evidence concerning IFN-R expression, constitutive JAK-STAT activation, and ISG overexpression in DS. Despite the lack of direct evidence that implicating this mild interferonopathy directly in illnesses in individuals with DS, we highlight the challenges ahead and directions that could be taken to determine more clearly the biological impact of interferonopathy on various immune-related conditions in DS.
影响因子：
0.6
作者：
Yan Z;Fan K;Fan Y;Wang X;Mao Q;Deng G;Wang Y
通讯作者：
Wang Y