Nucleic acid (NA) sensing receptors were first described in the context of host defense. We now know that some endosomal NA sensors play a critical role in the development of systemic autoimmune diseases such as systemic lupus erythematosus, whereas cytosolic Cyclic GMP-AMP Synthase/Stimulator of IFN Genes (cGAS/STING) DNA-detecting pathway has been associated with monogenic autoinflammatory interferonopathies such as Aicardi-Goutieres and Education; collaboration; communication STING-associated vasculopathy with onset in infancy (SAVI). DNaseII hypomorphic patients and DNase-/- IFNaR-/- (double knockout [DKO]) mice also develop an autoinflammatory syndrome associated with an interferon signature. We now add to the description of an unusual clinical manifestation of DKO mice that involves the accrual of trabecular bone in long bone marrow and the formation of ectopic bone within the spleen. This aberrant bone formation is lost not only in STING-deficient but also in Unc93b1-deficient mice and, therefore, depends on the interplay of cells expressing cytosolic and endosomal NA sensing receptors.

中文翻译：

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环 GMP-AMP 合酶/IFN 基因刺激剂和 Toll 样受体核酸传感通路在 DNaseII 缺陷引起的自身炎症和异常骨形成中的相互作用。

核酸 (NA) 感应受体首先是在宿主防御的背景下描述的。我们现在知道，一些内体 NA 传感器在系统性红斑狼疮等系统性自身免疫性疾病的发展中起着关键作用，而胞质环 GMP-AMP 合酶/IFN 基因刺激物 (cGAS/STING) DNA 检测途径与单基因自身炎症性干扰素病，如 Aicardi-Goutieres 和教育；合作; 婴儿期发病的 STING 相关血管病变 (SAVI)。DNaseII hypomorphic 患者和 DNase-/- IFNaR-/-（双敲除 [DKO]）小鼠也会出现与干扰素特征相关的自身炎症综合征。我们现在添加对 DKO 小鼠异常临床表现的描述，该表现涉及长骨髓中骨小梁的增加和脾脏中异位骨的形成。这种异常的骨形成不仅在 STING 缺陷小鼠中消失，而且在 Unc93b1 缺陷小鼠中也会消失，因此取决于表达细胞溶质和内体 NA 传感受体的细胞的相互作用。