The NLRP3 p.A441V Mutation in
IL‐1β
NLRP3
NLRP3‐AID
cryopyrin‐associated periodic syndromes
inflammasome
variation
Journal
ACR open rheumatology
ISSN: 2578-5745
Titre abrégé: ACR Open Rheumatol
Pays: United States
ID NLM: 101740025
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
entrez:
29
11
2019
pubmed:
30
11
2019
medline:
30
11
2019
Statut:
epublish
Résumé
To determine the molecular and cellular bases of autoinflammatory syndromes in a multigenerational French family with Muckle-Wells syndrome and in a patient originating from Portugal with familial cold autoinflammatory syndrome. Sequencing of The same heterozygous mutation (c.1322C>T, p.A441V) located in the NACHT domain, segregating with the disease within the first family, was identified in the two families. This mutation was found to be associated with different core haplotypes. NLRP3-A441V led to increased ASC speck formation and high levels of secreted IL-1β. Monocyte inflammasome-related gene expression and cytokine secretion, which were within the normal range in patients out of crisis, were found to be differentially regulated between the two probands, correlating with their phenotypic status. These molecular and cellular findings, which indicate a recurrent mutational event, clearly demonstrate the pathogenicity of the p.A441V missense mutation in
Identifiants
pubmed: 31777803
doi: 10.1002/acr2.1039
pii: ACR21039
pmc: PMC6857991
doi:
Types de publication
Journal Article
Langues
eng
Pagination
267-276Informations de copyright
© 2019 The Authors. ACR Open Rheumatology published by Wiley Periodicals, Inc. on behalf of American College of Rheumatology.
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