Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
2013
Introduction
Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported in association with various CAPS phenotypes and as a variant of uncertain consequence. The aim of this study was to characterize the clinical phenotypes and treatments in individuals with V198M assessed in a single UK center.
Keywords:
- Periodic syndrome
- Immunology
- Familial Mediterranean fever
- Young adult
- Cryopyrin-associated periodic syndrome
- Hereditary Autoinflammatory Diseases
- Rheumatology
- Pediatrics
- Carrier protein
- Internal medicine
- Medicine
- Penetrance
- Serum Amyloid A Protein
- Mutation
- Medical history
- Schnitzler syndrome
- Asymptomatic
- Family history
- Correction
- Source
- Cite
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