Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation

Authors

  • Ken Shiraishi Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
  • Koji Sayama

DOI:

https://doi.org/10.2340/actadv.v102.2077

Keywords:

cryopyrin-associated periodic syndrome, CAPS, NLRP3, A441V, mutation

Abstract

Abstract is missing (Short communication)

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References

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.

https://doi.org/10.1038/ng756 DOI: https://doi.org/10.1038/ng756

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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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.

https://doi.org/10.1111/j.1365-2133.2010.09978.x DOI: https://doi.org/10.1111/j.1365-2133.2010.09978.x

Published

2022-03-10

How to Cite

Shiraishi , K., & Sayama, K. (2022). Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation. Acta Dermato-Venereologica, 102, adv00667. https://doi.org/10.2340/actadv.v102.2077

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Short Communication

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