Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Muckle-Wells syndrome

Muckle-Wells syndrome is an autosomal dominant disorder caused by mutations of the NLRP3 gene. It is characterized by episodic skin rash, arthralgias, and fever. Later sensorineural deafness may develop as well as renal amyloidosis. The therapy consists in antagonizing interleukin 1

Management

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

Symptoms

Inflammation
In Muckle-Wells syndrome inflammation is dominated by episodic skin rash and arthralgias.
Deafness
A late-onset sensorineural deafness is typical of Muckle-Wells syndrome.

Systematic

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

References:

1.

Hoffman HM et al. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

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2.

Dodé C et al. (2002) New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

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3.

Meng G et al. (2009) A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses.

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4.

Cuisset L et al. (1999) Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

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5.

Prost A et al. (1976) [Intermittent rheumatism revealing a familial syndrome. Arthritisurticarian eruptionsdeafness: Muckle-Wells syndrome without kidney amylosis].

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6.

MUCKLE TJ et al. (1962) Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.

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7.

None (1969) Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome.

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8.

Linke RP et al. (1983) Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue.

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9.

Berthelot JM et al. (1994) Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family.

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10.

Throssell D et al. (1996) Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?

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11.

Lieberman A et al. (1998) Muckle-Wells syndrome: case report and review of cutaneous pathology.

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12.

Gerbig AW et al. (1998) Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis?

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13.

OMIM.ORG article

Omim 191900 [^]
14.

Orphanet article

Orphanet ID 575 [^]
15.

Wikipedia article

Wikipedia EN (Muckle–Wells_syndrome) [^]
Update: April 29, 2019