Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.
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DOI：
10.3389/fimmu.2012.00209
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发表时间：
2012
影响因子：
7.3
通讯作者：
Villa A
中科院分区：
文献类型：
--
作者：
Catucci M;Castiello MC;Pala F;Bosticardo M;Villa A
威斯科特-奥尔德里奇综合征 (WAS) 是一种严重的 X 连锁原发性免疫缺陷病，每 100 万男性中就有 1-10 人受到影响。 WAS 是由 WAS 蛋白 (WASP) 表达基因突变引起的，导致该蛋白表达缺失或减少。 WASP 是一种细胞质蛋白，调节造血细胞中肌动蛋白丝的形成。 WASP 缺陷会导致人类和 WAS 小鼠模型（Was−/− 小鼠）中的许多免疫细胞缺陷。 WAS 患者的细胞和体液免疫缺陷都会导致严重临床表现的发生，特别是微血小板减少症、湿疹、反复感染以及发生自身免疫和恶性肿瘤的高度易感性。 22%至72%的WAS患者患有自身免疫性疾病，最常见的表现是自身免疫性溶血性贫血，其次是血管炎、关节炎、中性粒细胞减少症、炎症性肠病和IgA肾病。许多团体广泛探索了 WAS 中的免疫细胞功能，部分解释了细胞缺陷如何导致病理学。然而，自身免疫表现发生的机制尚未明确描述。在本综述中，我们报告了 WAS 免疫细胞功能研究的最新进展，这些进展已开始揭示导致 WAS 患者自身免疫并发症的机制。
Wiskott–Aldrich Syndrome (WAS) is a severe X-linked Primary Immunodeficiency that affects 1–10 out of 1 million male individuals. WAS is caused by mutations in the WAS Protein (WASP) expressing gene that leads to the absent or reduced expression of the protein. WASP is a cytoplasmic protein that regulates the formation of actin filaments in hematopoietic cells. WASP deficiency causes many immune cell defects both in humans and in the WAS murine model, the Was−/− mouse. Both cellular and humoral immune defects in WAS patients contribute to the onset of severe clinical manifestations, in particular microthrombocytopenia, eczema, recurrent infections, and a high susceptibility to develop autoimmunity and malignancies. Autoimmune diseases affect from 22 to 72% of WAS patients and the most common manifestation is autoimmune hemolytic anemia, followed by vasculitis, arthritis, neutropenia, inflammatory bowel disease, and IgA nephropathy. Many groups have widely explored immune cell functionality in WAS partially explaining how cellular defects may lead to pathology. However, the mechanisms underlying the occurrence of autoimmune manifestations have not been clearly described yet. In the present review, we report the most recent progresses in the study of immune cell function in WAS that have started to unveil the mechanisms contributing to autoimmune complications in WAS patients.
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DOI：
10.1084/jem.20030976
发表时间：
2004-01-05
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Badour K;Zhang J;Shi F;Leng Y;Collins M;Siminovitch KA
通讯作者：
Siminovitch KA
影响因子：
14.2
作者：
Bosticardo, Marita;Draghici, Elena;Villa, Anna
通讯作者：
Villa, Anna
影响因子：
8.6
作者：
Adriani, Marsilio;Aoki, Joseph;Schwartzberg, Pamela L.
通讯作者：
Schwartzberg, Pamela L.
影响因子：
20.3
作者：
Bouma, Gerben;Burns, Siobhan;Thrasher, Adrian J.
通讯作者：
Thrasher, Adrian J.
影响因子：
20.3
作者：
Bouma, Gerben;Mendoza-Naranjo, Ariadna;Thrasher, Adrian J.
通讯作者：
Thrasher, Adrian J.