A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.

doi:10.1002/art.27342

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Article

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.

Arthritis and rheumatism - 1 Apr 2010

Aróstegui Juan I, Lopez Saldaña Ma Dolores, Pascal Mariona, Clemente Daniel, Aymerich Marta, Balaguer Francesc, Goel Ajay, Fournier del Castillo Concepción, Rius Josefa, Plaza Susana, López Robledillo Juan Carlos, Juan Manel, Ibañez Mercedes, Yagüe Jordi

Abstract excerpt

OBJECTIVE: Chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a severe, early-onset autoinflammatory disease characterized by an urticaria-like rash, arthritis/arthropathy, variable neurologic involvement, and dysmorphic features, which usually respond to interleukin-1 blockade. CINCA/NOMID has been associated with...

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PMID: 20131270
DOI: 10.1002/art.27342

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NLRP3

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A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.PMID 20131270Read ↗

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