期刊
RHEUMATOLOGY
卷 47, 期 3, 页码 309-310出版社
OXFORD UNIV PRESS
DOI: 10.1093/rheumatology/kem318
关键词
Muckle-Wells syndrome (MWS); familial cold autoinflammatory syndrome (FCAS); CIAS1; anakinra; Cryopyrin-associated periodic syndromes (CAPS)
类别
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.
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