New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes
| Autor: | Olivier Fain, Gilles Grateau, L. Maksimovic, Jérôme Stirnemann, Frédéric Caux, Anne-Sophie Morin, Nathalie Ravet, E. Letellier, S. Rouaghe, Laurence Cuisset |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Heterozygote Adolescent Fever Urticaria DNA Mutational Analysis Mutation Missense Familial Mediterranean fever Disease Risk Assessment Severity of Illness Index Autoimmune Diseases Rheumatology Familial Cold Autoinflammatory Syndrome Immunopathology Genotype NLR Family Pyrin Domain-Containing 3 Protein medicine Missense mutation Humans Pharmacology (medical) Genetic Predisposition to Disease Anakinra business.industry Syndrome Middle Aged medicine.disease Conjunctivitis Arthralgia Pedigree Cold Temperature Interleukin 1 Receptor Antagonist Protein Phenotype Treatment Outcome Immunology Mutation (genetic algorithm) Chronic Disease Female business Carrier Proteins medicine.drug Follow-Up Studies |
| Zdroj: | Rheumatology (Oxford, England). 47(3) |
| ISSN: | 1462-0332 |
| Popis: | Objectives. Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) syndrome was also recently associated with mutation in the same gene. A phenotypic and genotypic continuum seems to exist from the most benign (FCAS) to the most severe forms (CINCA). Although a CIAS1 mutation can be associated with two different phenotypes. Methods. We report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1. Results. Anakinra controlled inflammatory flares in the three patients. Conclusions. FCAS, MWS and CINCA could be different phenotype expressions of the same disease. |
| Databáze: | OpenAIRE |
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