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Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome

Chronic infantile neurological cutaneous and articular (CINCA) syndrome1 is a rare, genetic autoinflammatory disease that belongs to the spectrum of cryopyrin-associated periodic syndromes (CAPS), along with the familial cold autoinflammatory syndrome and the Muckle-Wells syndrome. CAPS are associat...

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Main Authors: Ebrahimi-Fakhari, Darius (Author) , Wahlster, Lara (Author) , Mackensen, Friederike (Author) , Blank, Norbert (Author)
Format: Article (Journal) Editorial
Language:English
Published: October 1, 2010
In: The journal of rheumatology
Year: 2010, Volume: 37, Issue: 10, Pages: 2196-2197
ISSN:1499-2752
DOI:10.3899/jrheum.100290
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3899/jrheum.100290
Verlag, lizenzpflichtig, Volltext: https://www.jrheum.org/content/37/10/2196
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Author Notes:Darius Ebrahimi-Fakhari, Lara Wahlster, Friederike Mackensen, Norbert Blank

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520 |a Chronic infantile neurological cutaneous and articular (CINCA) syndrome1 is a rare, genetic autoinflammatory disease that belongs to the spectrum of cryopyrin-associated periodic syndromes (CAPS), along with the familial cold autoinflammatory syndrome and the Muckle-Wells syndrome. CAPS are associated with autosomal-dominant mutations in the NLRP3 gene (formerly CIAS1), which encodes the protein cryopyrin2,3. Within the spectrum of CAPS, the CINCA syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is considered to be the most severe phenotype. A triad of urticarial rashes, neurological manifestations, and arthropathy, accompanied by recurrent fever episodes and systemic inflammation, originally defined CINCA syndrome1,4. Systemic AA-amyloidosis is a serious longterm complication that can lead to renal failure and increased mortality4. 
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