The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.

Abstract

Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases present clinically with episodes of seemingly unprovoked inflammation (fever, rashes, and elevation of acute phase reactants). Understanding the genetics has led to discovery of new molecules involved in recognizing exogenous and endogenous danger signals, and the inflammatory response to these stimuli. These advances have furthered understanding of innate inflammatory pathways and spurred collaborative research in rheumatology and infectious diseases. The pivotal roles of interleukin (IL)-1beta in cryopyrin-associated periodic syndromes, tumor necrosis factor (TNF) in TNF receptor-associated periodic syndrome, and links to inflammatory cytokine dysregulation in other monogenic autoinflammatory diseases have resulted in effective therapies targeting proinflammatory cytokines IL-1beta and TNF and uncovered other new potential targets for anti-inflammatory therapies.

• Authors: Rachel L Glaser, Raphaela Goldbach-Mansky
• Journal: Current allergy and asthma reports (Curr Allergy Asthma Rep) Vol. 8 Issue 4 Pg. 288-98 (Jul 2008) ISSN: 1534-6315 [Electronic] United States
• PMID: 18606080 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Review)

Chemical References

• Anti-Inflammatory Agents, Non-Steroidal
• Cytokines
• Immunosuppressive Agents
• Interleukin-1beta
• Tumor Necrosis Factor-alpha

Topics

• Anti-Inflammatory Agents, Non-Steroidal (therapeutic use)
• Autoimmune Diseases (drug therapy, genetics, immunology, metabolism)
• Cytokines (immunology, metabolism)
• Humans
• Immunosuppressive Agents (therapeutic use)
• Inflammation (drug therapy, immunology, metabolism)
• Interleukin-1beta (immunology, metabolism)
• Syndrome
• Tumor Necrosis Factor-alpha (immunology, metabolism)