Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.
Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4.
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations. The intracellular protein SOCS1 is known to downregulate cytokine signaling by inhibiting the JAK-STAT pathway. Accordingly, patient-derived lymphocytes exhibit increased STAT activation in vitro in response to interferon-γ, IL-2 and IL-4 that is reverted by the JAK1/JAK2 inhibitor ruxolitinib. This effect is associated with a series of in vitro and in vivo immune abnormalities consistent with lymphocyte hyperactivity. Hence, SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hypersensitivity of immune cells.
自身免疫是由于自身耐受的检查点失效而发生的。家族性自身免疫疾病的研究可以揭示更常见自身免疫疾病中涉及的病理生理机制。在这里,我们通过全外显子/基因组测序,在五个无血缘关系的家族中发现了十个具有早期自身免疫表现的患者的 SOCS1 基因杂合子、常染色体显性、种系功能丧失突变。细胞内蛋白 SOCS1 已知通过抑制 JAK-STAT 通路来下调细胞因子信号。因此,患者来源的淋巴细胞在体外对干扰素-γ、IL-2 和 IL-4 的反应中表现出 STAT 激活增加,而 JAK1/JAK2 抑制剂芦可替尼可逆转这种激活。这种效应与一系列体外和体内免疫异常相关,这些异常与免疫细胞的淋巴细胞过度活跃一致。因此,SOCS1 单倍不足导致一种显性遗传的易感性,与免疫细胞的细胞因子超敏性有关。
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