• Florian Hoffmann, Peter Lohse, Silvia Stojanov, Yoon S Shin, Ellen D Renner, Anja Kéry, Stephanie Zellerer, and Bernd H Belohradsky.
• Department of Infectious Diseases and Immunology, Children's Hospital, University of Munich, Germany. florian.hoffmann@med.uni-muenchen.de
• Eur. J. Hum. Genet. 2005 Apr 1; 13 (4): 510-2.

AbstractThe hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK). TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2. We describe a girl with heterozygosity for the common MVK V377I mutation and for a novel T(1132) --> C transition, leading to the exchange of serine (TCC) by proline (CCC) at amino-acid position 378. Interestingly, our patient presented only with mild clinical features typical of HIDS and slightly increased immunoglobulin D levels, but a distinctly diminished MK activity. The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms.

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