Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CINCA syndrome

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.

Management

As with all cryopyrin-associated periodic syndromes, interleukin-1 antagonism is effective in both management of acute inflammatory attacks and prevention of amyloidosis.

Systematic

Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
Muckle-Wells syndrome

References:

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 [^]
9.

Orphanet article

Orphanet ID 1451 [^]
10.

Wikipedia article

Wikipedia EN (Neonatal-onset_multisystem_inflammatory_disease) [^]
Update: April 29, 2019