免疫学
炎症
自身免疫
NALP3
生物
家族性地中海热
免疫失调
单倍率不足
免疫系统
医学
疾病
炎症体
遗传学
基因
表型
内科学
作者
Sarah A. Blackstone,Daniel L. Kastner,Lori Broderick
标识
DOI:10.1016/j.jaci.2023.11.001
摘要
In 2009, Masters et al coined the term horror autoinflammaticus, a play on Paul Ehrlich's description of the negative aspects of inflammation that is meant to describe a new but growing number of disorders of hyperactivation of the immune system. Classically, these disorders are due to inflammation driven by innate immune components independent of antigens, with features distinct from those of immunodeficiency or autoimmunity disorders. Currently, autoinflammatory disorders may be divided broadly into gain-of-function mutations in genes encoding pattern recognition receptors or their adaptor molecules (eg, NLRP3-related autoinflammatory disease, familial Mediterranean fever, NLRC4-related autoinflammatory disease, Blau syndrome), loss-of-function mutations in negative regulators (eg, deficiency of IL-1 receptor antagonist syndrome), or loss-of-function mutations or haploinsufficiency of proteins controlling cellular homeostasis or intracellular stress (eg, TNF receptor–associated periodic syndrome, mevalonate kinase deficiency, Aicardi-Goutières syndrome, STING-associated vasculopathy with onset in infancy, proteasome-associated autoinflammatory syndromes).
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