Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
CINCA syndrome is an autosomal dominant disorder caused by mutations of the NLRP3 gene. It is characterized by neonatal-onset chronic multisystemic inflammation involving skin, joints, and central nervous system.
As with all cryopyrin-associated periodic syndromes, interleukin-1 antagonism is effective in both management of acute inflammatory attacks and prevention of amyloidosis.
Cryopyrin-associated periodic syndrome
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CINCA syndrome
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NLRP3
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Familial cold autoinflammatory syndrome 1
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Muckle-Wells syndrome
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| 1. |
Feldmann J et al. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 
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| 2. |
Aksentijevich I et al. (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
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| 3. |
Leone V et al. (2003) Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.
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| 4. |
Boschan C et al. (2006) Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.
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| 5. |
Torbiak RP et al. (1989) NOMID--a neonatal syndrome of multisystem inflammation.
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| 6. |
Hassink SG et al. (1983) Neonatal onset multisystem inflammatory disease.
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| 7. |
Prieur AM et al. (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation.
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| 8. |
OMIM.ORG article Omim 607115
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| 9. |
Orphanet article Orphanet ID 1451
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| 10. |
Wikipedia article Wikipedia EN (Neonatal-onset_multisystem_inflammatory_disease)
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