Monogenic autoimmunity.
Monogenic autoimmunity.
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DOI：
10.1146/annurev-immunol-020711-074953
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发表时间：
2012
影响因子：
29.7
通讯作者：
Anderson MS
中科院分区：
文献类型：
--
作者：
Cheng MH;Anderson MS
单基因自身免疫综合征提供了一个罕见的，但强大的一瞥免疫耐受的基本机制。这些综合征不仅揭示了个体耐受性断点的作用，而且揭示了自身免疫发病机制的模式。先天免疫系统是一个无处不在的危险信号感知系统，它的紊乱往往会产生系统性自身免疫。例如，自身抗原清除的缺陷和1型干扰素的慢性刺激导致C1q缺陷、SPENCDI和AGS中所见的全身性自身免疫。相反，为抗原特异性而建立的适应性免疫的干扰倾向于产生器官特异性自身免疫。因此，淋巴细胞稳态的丧失，无论是通过细胞凋亡，抑制或负选择的缺陷，导致ALPS，IPEX和APS 1的器官特异性自身免疫。我们讨论了这些突出的综合征的独特的疾病机制，以及它们如何有助于器官特异性或全身性自身免疫谱。对自身免疫性疾病中罕见变异的持续研究将为未来针对罕见和常见自身免疫性疾病的研究和治疗提供信息。
Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the fundamental mechanisms of immunologic tolerance. Such syndromes reveal not only the contribution of an individual breakpoint in tolerance but also patterns in the pathogenesis of autoimmunity. Disturbances in innate immunity, a system built for ubiquitous sensing of danger signals, tend to generate systemic autoimmunity. For example, defects in the clearance of self-antigens and chronic stimulation of type 1 interferons lead to the systemic autoimmunity seen in C1q deficiency, SPENCDI, and AGS. In contrast, disturbances of adaptive immunity, which is built for antigen specificity, tend to produce organ-specific autoimmunity. Thus, the loss of lymphocyte homeostasis, whether through defects in apoptosis, suppression, or negative selection, leads to organ-specific autoimmunity in ALPS, IPEX, and APS1. We discuss the unique mechanisms of disease in these prominent syndromes as well as how they contribute to the spectrum of organ-specific or systemic autoimmunity. The continued study of rare variants in autoimmune disease will inform future investigations and treatments directed at rare and common autoimmune diseases alike.
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影响因子：
30.8
作者：
Briggs, Tracy A.;Rice, Gillian I.;Daly, Sarah;Urquhart, Jill;Gornall, Hannah;Bader-Meunier, Brigitte;Baskar, Kannan;Baskar, Shankar;Baudouin, Veronique;Beresford, Michael W.;Black, Graeme C. M.;Dearman, Rebecca J.;de Zegher, Francis;Foster, Emily S.;Frances, Camille;Hayman, Alison R.;Hilton, Emma;Job-Deslandre, Chantal;Kulkarni, Muralidhar L.;Le Merrer, Martine;Linglart, Agnes;Lovell, Simon C.;Maurer, Kathrin;Musset, Lucile;Navarro, Vincent;Picard, Capucine;Puel, Anne;Rieux-Laucat, Frederic;Roifman, Chaim M.;Scholl-Buergi, Sabine;Smith, Nigel;Szynkiewicz, Marcin;Wiedeman, Alice;Wouters, Carine;Zeef, Leo A. H.;Casanova, Jean-Laurent;Elkon, Keith B.;Janckila, Anthony;Lebon, Pierre;Crow, Yanick J.
通讯作者：
Crow, Yanick J.
影响因子：
56.9
作者：
Anderson, MS;Venanzi, ES;Mathis, D
通讯作者：
Mathis, D
DOI：
10.1073/pnas.0501675102
发表时间：
2005-04-05
影响因子：
11.1
作者：
Bettelli, E;Dastrange, M;Oukka, M
通讯作者：
Oukka, M
影响因子：
3.5
作者：
AHONEN, P
通讯作者：
AHONEN, P
影响因子：
4.4
作者：
Bardel, Emilie;Larousserie, Frederique;Devergne, Odile
通讯作者：
Devergne, Odile