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Cryopyrin-associated periodic syndromes (CAPS) are rare autoinflammatory diseases caused by dominantly inherited or de novo gain-of-function NLRP3 mutations. They include familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological, cutaneous and articular syndrome.1 The NLRP3 gene encodes cryopyrin, a key component of the cytosolic complex termed inflammasome, which generates the active form of interleukin (IL)-1ß. Previous studies showed an uncontrolled IL-1ß overproduction in CAPS, representing the basis from which to treat these patients with IL-1 blockade.1–3
The important role of somatic NLRP3 mutations in CAPS has been recently shown.4 However, as occurs in most Mendelian diseases, no data are available concerning the presence of low-level somatic NLRP3 mosaicism in parents of CAPS patients. To address this issue we performed massively parallel DNA …
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