Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS) in German Children: Epidemiological, Clinical and Genetic Characteristics
E. Lainka, U. Neudorf, P. Lohse, C. Timmann, M. Bielak, S. Stojanov, K. Huss, R. von Kries, T. Niehues · Klinische Pädiatrie · 2010 · Heft 06 · S. 356-361
Bibliografische Angaben
Zusammenfassung
Abstract BACKGROUND: Cryopyrin-associated periodic syndromes (CAPS) are rare disorders belonging to the group of hereditary periodic fever (HPF) syndromes. These auto-inflammatory diseases (AID) are characterized by recurrent episodes of inflammation with attacks of fever variably associated with serosal, synovial and/or cutaneous inflammation, usually in a self-limiting manner, and with a mostly monogenic origin. The aims were to determine the incidence of CAPS and the spectrum of mutations in the NLRP3 (formerly=CIAS1) gene and to describe the clinical manifestations. PATIENTS AND METHODS: A prospective survei…
