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Familial cold autoinflammatory syndrome 2

Familial cold autoinflammatory syndrome 2 (FCAS2) is an autosomal dominant disorder caused by mutations of the NLRP12 gene. It is characterized by recurrent episodes of skin rash with arthralgias, myalgias, fever and chills. Typically those attacks occur after exposure to cold.

Systematic

Familial cold autoinflammatory syndromes
Familial cold autoinflammatory syndrome 1
Familial cold autoinflammatory syndrome 2
NLRP12
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 4

References:

1.

Jru I et. al. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes.

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2.

Borghini S et. al. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

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3.

Jru I et. al. (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

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4.

Vitale A et. al. () Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.

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5.

Xia X et. al. (2016) Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

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6.

Shen M et. al. (2017) NLRP12 autoinflammatory disease: a Chinese case series and literature review.

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Update: Aug. 14, 2020
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