Abstract
The cryopyrin-associated periodic syndrome (CAPS) comprises of three clinical phenotypes, the familial cold-induced autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and the ‘chronic infantile neurological cutaneous and articular’ syndrome (CINCA; in the USA known as ‘neonatal onset multisystem inflammatory disease’, NOMID). CAPS is a rare hereditary systemic illness which is caused by mutations of single genes encoding for proteins that are involved in innate immunity regulating inflammation, apoptosis and the production of cytokines. Such diseases can be thought of as ‘inborn errors of inflammation’. In case of CAPS, NLRP3, which is located on chromosome 1q44, has been identified as the responsible gene. NLRP3 encodes for the protein cryopyrin which is mutated in CAPS. In nearly 50 % of the CAPS patients, however, no NLRP3 mutations can be detected, so that the presence of additional genetic factors that initiate and modulate the cryopyrinopathies has been discussed. In some cases with typical clinical features of CAPS but without identifiable NLRP3, germ line mutations and somatic mutations have been discovered.
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Michels, H., Deuter, C., Kümmerle-Deschner, J. (2016). The Cryopyrin-Associated Periodic Syndrome (CAPS). In: Zierhut, M., Pavesio, C., Ohno, S., Orefice, F., Rao, N. (eds) Intraocular Inflammation. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-75387-2_78
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DOI: https://doi.org/10.1007/978-3-540-75387-2_78
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