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
Abstract is missing (Short communication)
Downloads
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
How to Cite
License
Copyright (c) 2022 Ken Shiraishi , Koji Sayama
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.
Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.