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)

Downloads

Download data is not yet available.

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

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.

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

Downloads

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

Issue

Section

Short Communication

Categories