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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

https://doi.org/10.1136/annrheumdis-2012-202913

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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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    Footnotes

    • Contributors SJ-T and ER contributed to collection of biological samples, acquisition of data, revising the article and approval of the version of the article submitted for publication. EG-R, ER and JY contributed to acquisition of data, analysis and interpretation of data, revising the article and approval of the version of the article submitted for publication. JIA contributed to study design, acquisition of data, analysis and interpretation of data, drafting the article, writing the manuscript and approval of the version of the article submitted for publication.

    • Funding Supported by Ministerio de Sanidad y Consumo grant FIS PS09/01182.

    • Competing interests None.

    • Ethics approval Ethics Committee of the Hospital Clinic.

    • Provenance and peer review Not commissioned; externally peer reviewed.