Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation
DOI:
https://doi.org/10.2340/actadv.v102.2077Keywords:
cryopyrin-associated periodic syndrome, CAPS, NLRP3, A441V, mutationAbstract
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Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-305.
Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001; 108: 615-620.
https://doi.org/10.1067/mai.2001.118790
Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, et al. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. J Biol Chem 2002; 277: 29874-29880.
https://doi.org/10.1074/jbc.M203915200
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002; 71: 198-203.
https://doi.org/10.1086/341357
Nakamichi S, Origuchi T, Fukui S, Yoda A, Matsubara H, Nagaura Y, et al. A rare case of cryopyrin-associated periodic syndrome in an elderly woman with NLRP3 and MEFV mutations. Intern Med 2019; 58: 1017-1022.
https://doi.org/10.2169/internalmedicine.1401-18
Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, et al. The NLRP3 p.A441V Mutation in NLRP3-AID pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a recurrent mutational event. ACR Open Rheumatol 2019; 1: 267-276.
https://doi.org/10.1002/acr2.1039
Lasiglie D, Traggiai E, Federici S, Alessio M, Buoncompagni A, Accogli A, et al. Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients. PLoS One 2011; 6: e20014.
https://doi.org/10.1371/journal.pone.0020014
Yamauchi A, Iwata H, Ohnishi H, Teramoto T, Kondo N, Seishima M. Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. Br J Dermatol 2010; 163: 1351-1353.
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