Down Syndrome and Autoimmune Disease.

IF 8.4 2区 医学 Q1 ALLERGY Clinical Reviews in Allergy & Immunology Pub Date : 2024-06-01 Epub Date: 2024-06-24 DOI:10.1007/s12016-024-08996-2
Brian Hom, Natalie K Boyd, Benjamin N Vogel, Nicole Nishimori, Mellad M Khoshnood, Saba Jafarpour, Deepti Nagesh, Jonathan D Santoro
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Abstract

Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto's thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5-2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05-1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population.

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唐氏综合症与自身免疫性疾病。
唐氏综合征是导致智力障碍最常见的遗传病因,以前曾与影响多个器官系统的多种自身免疫性疾病相关。该人群中自身免疫性疾病以及其他炎症和感染性疾病的高发病率表明,21 号染色体三倍化导致了内在的免疫失调。关于 21 号染色体在干扰素激活、细胞因子产生和 B 细胞介导的自身免疫激活中的作用的新数据是新出现的假说,可以解释自身免疫性甲状腺疾病、乳糜泻、I 型糖尿病、自身免疫性皮肤病和各种自身免疫性神经系统疾病发病率升高的原因。随着唐氏综合症患者预期寿命的延长,了解这些疾病的流行病学、临床特征、治疗方法和根本原因将变得越来越重要。桥本氏甲状腺炎等疾病在 13% 到 34% 的唐氏综合症患者中普遍存在,但在神经正常人群中仅占 3%,这种模式在乳糜泻(5.8% 对 0.5-2%)、斑秃(27.7% 对 2%)和白癜风(4.4% 对 0.05-1.55%)患者中也同样存在。鉴于自身免疫性疾病的长期性,早期识别和管理会对唐氏综合症患者的生活质量产生重大影响。本综述将重点介绍在唐氏综合征患者中观察到的常见临床自身免疫疾病,并探讨我们目前对该人群疾病机理的理解。
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来源期刊
CiteScore
22.30
自引率
1.10%
发文量
58
审稿时长
6-12 weeks
期刊介绍: Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership. The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.
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