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: | , , , |
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| Format: | Article (Journal) Editorial |
| Language: | English |
| Published: |
October 1, 2010
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| 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 |
| Summary: | 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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| Item Description: | Gesehen am 27.02.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1499-2752 |
| DOI: | 10.3899/jrheum.100290 |