Dysregulation of innate immunity: hereditary periodic fever syndromes
Open Access
- 16 January 2009
- journal article
- review article
- Published by Wiley in British Journal of Haematology
- Vol. 144 (3), 279-302
- https://doi.org/10.1111/j.1365-2141.2008.07036.x
Abstract
The hereditary periodic fever syndromes encompass a rare group of diseases that have lifelong recurrent episodes of inflammatory symptoms and an acute phase response in common. Clinical presentation can mimic that of lymphoproliferative disorders and patients often go undiagnosed for many years. These syndromes follow an autosomal inheritance pattern, and the major syndromes are linked to specific genes, most of which are involved in regulation of the innate immune response through pathways of apoptosis, nuclear factor κΒ activation and cytokine production. In others, the link between the protein involved and inflammation is less clear. The recurrent inflammation can lead to complications, such as renal impairment due to amyloidosis and vasculitis, visual impairment, hearing loss, and joint destruction, depending on the specific syndrome. In recent years, treatment options for these diseases have improved significantly. Early establishment of an accurate diagnosis and start of appropriate therapy improves prognosis in these patients.Keywords
This publication has 103 references indexed in Scilit:
- A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinraPediatric Nephrology, 2007
- Nonclassic Neurologic Features in Cryopyrin-Associated Periodic SyndromesPediatric Neurology, 2007
- Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome‐associated febrile crisisJournal of Inherited Metabolic Disease, 2006
- The PFAPA syndrome in oral medicine: Differential diagnosis and treatmentOral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology, 2006
- Statins as antiinflammatory and immunomodulatory agents: A future in rheumatologic therapy?Arthritis & Rheumatism, 2006
- Anti-Inflammatory Effects of Statins: Clinical Evidence and Basic MechanismsNature Reviews Drug Discovery, 2005
- Familial Mediterranean fever responds well to infliximab: single case experienceClinical Rheumatology, 2005
- Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patient with PAPA syndromeThe Journal of Pediatrics, 2004
- Tumor necrosis factor signalingCell Death & Differentiation, 2003
- A candidate gene for familial Mediterranean feverNature Genetics, 1997