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First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes
  1. Santiago Jiménez-Treviño1,
  2. Eva González-Roca2,
  3. Estibaliz Ruiz-Ortiz2,
  4. Jordi Yagüe2,
  5. Eduardo Ramos1,
  6. Juan Ignacio Aróstegui2
  1. 1 Pediatrics Department, Hospital Central de Asturias, Oviedo, Asturias, Spain
  2. 2 Immunology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain
  1. Correspondence to Dr Juan Ignacio Aróstegui, Immunology Department (esc 4-pl 0), Hospital Clinic, IDIBAPS, Villarroel, 170, Barcelona 08036, Spain; jiaroste{at}clinic.ub.es

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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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