Monogenic Autoinflammatory Diseases: Disorders of Amplified Danger Sensing and Cytokine Dysregulation

被引：30
作者：
Sanchez, Gina A. Montealegre [1 ]
de Jesus, Adriana Almeida [1 ]
Goldbach-Mansky, Raphaela [1 ]
机构：
[1] Natl Inst Arthrit & Musculoskeletal & Skin Dis NI, Translat Autoinflammatory Dis Sect, NIH, Bethesda, MD 20892 USA
来源：
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA | 2013年 / 39卷 / 04期
关键词：
Cryopyrin-associated periodic syndrome (CAPS); Neonatal-onset multisystem inflammatory disease (NOMID); Proteasome-associated autoinflammatory syndrome (PRAAS); Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE); Deficiency of the IL-1 receptor antagonist (DIRA); Inflammasome; Autoinflammatory diseases; Intracellular pattern recognition receptors (PRR); FAMILIAL MEDITERRANEAN FEVER; MEVALONATE KINASE-DEFICIENCY; MUCKLE-WELLS-SYNDROME; CONGENITAL DYSERYTHROPOIETIC ANEMIA; RECURRENT MULTIFOCAL OSTEOMYELITIS; PEDIATRIC GRANULOMATOUS ARTHRITIS; GENERALIZED PUSTULAR PSORIASIS; RILONACEPT INTERLEUKIN-1 TRAP; INFLAMMATORY-BOWEL-DISEASE; PERIODIC SYNDROME TRAPS;
D O I：
10.1016/j.rdc.2013.08.001
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered through activation of altered pattern recognition receptor (PRR) pathways and result in cytokine/chemokine amplification loops and the inflammatory clinical phenotype seen in autoinflammatory patients. The PAR response can be triggered by accumulation of metabolites, by mutations in sensors leading to their constitutive overactivation, or by mutations in mediator cytokine pathways that lead to amplification and/or inability to downregulate an inflammatory response in hematopoietic and/or nonhematopoietic cells. The study of the pathogenesis of sterile inflammation in patients with autoinflammatory syndromes continues to uncover novel inflammatory pathways.
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收藏
页码：701 / +
页数：35
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