TY - JOUR T1 - First report of vertical transmission of a somatic <em>NLRP3</em> mutation in cryopyrin-associated periodic syndromes JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - 1109 LP - 1110 DO - 10.1136/annrheumdis-2012-202913 VL - 72 IS - 6 AU - Santiago Jiménez-Treviño AU - Eva González-Roca AU - Estibaliz Ruiz-Ortiz AU - Jordi Yagüe AU - Eduardo Ramos AU - Juan Ignacio Aróstegui Y1 - 2013/06/01 UR - http://ard.bmj.com/content/72/6/1109.abstract N2 - 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 … ER -