Somatic NLRP3 mosaicism in Muckle-Wells syndrome

  title={Somatic NLRP3 mosaicism in Muckle-Wells syndrome},
  author={Eva Gonz{\'a}lez-Roca and Anna Mensa-Vilar{\'o} and Susana Plaza and MC Anton and J. Sabri{\`a} Rius and Est{\'i}baliz Ru{\'i}z-Ortiz and Josep M Campistol and Alejandro Souto and Jer{\'o}nima Ca{\~n}ellas and Kenji Nakagawa and Ryuta Nishikomori and Jordi Yag{\"u}e and Juan Manuel Moreno Ar{\'o}stegui},
Introduction Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations. All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been recently detected in ≈35% of patients with CINCA. However, no… CONTINUE READING


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Pediatric Rheumatology

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doi:10.1186/1546-0096-13-S1-P61 Cite this article as: Gonzalez-Roca et al.: Somatic NLRP3 mosaicism in Muckle-Wells syndrome

  • Pediatric Rheumatology
  • 2015

Germans Trias i Pujol Rheumatology Pediatrics

  • Germans Trias i Pujol Rheumatology Pediatrics

Spain Full list of author information is available at the end of the article

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