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Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype

dc.rights.licenseopenen_US
dc.contributor.authorFAYAND, A.
dc.contributor.authorCESCATO, M.
dc.contributor.authorLE CORRE, L.
dc.contributor.authorTERRÉ, A.
dc.contributor.authorWACHEUX, M.
dc.contributor.authorZHU, Y.Y.J.
dc.contributor.authorMELET, A.
dc.contributor.authorMOREAU, T.R.J.
dc.contributor.authorBODAGHI, B.
hal.structure.identifierBordeaux population health [BPH]
hal.structure.identifierGlobal Health in the Global South [GHiGS]
dc.contributor.authorBONNET, Fabrice
dc.contributor.authorBRONNIMANN, Didier
dc.contributor.authorCUISSET, L.
dc.contributor.authorFARIA, R.
dc.contributor.authorGRATEAU, G.
dc.contributor.authorPILLET, Pascal
dc.contributor.authorMULDERS-MANDERS, C.M.
dc.contributor.authorNEVEN, B.
dc.contributor.authorQUARTIER, P.
dc.contributor.authorRICHER, Olivier
dc.contributor.authorSAVEY, L.
hal.structure.identifierImmunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept]
dc.contributor.authorTRUCHETET, Marie-Elise
dc.contributor.authorPY, B.F.
dc.contributor.authorBOURSIER, G.
dc.contributor.authorHERBEUVAL, J.-P.
dc.contributor.authorGEORGIN-LAVIALLE, S.
dc.contributor.authorRODERO, M.P.
dc.date.accessioned2024-06-13T13:27:30Z
dc.date.available2024-06-13T13:27:30Z
dc.date.issued2023-11
dc.identifier.issn0091-6749en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/200465
dc.description.abstractEnBackground: Cryopyrin-associated periodic syndrome (CAPS) is associated with NLRP3 pathogenic variants, mostly located in the NACHT (neuronal apoptosis inhibitor protein, MHC class 2 transcription activator, incompatibility locus protein from Podospora anserina, telomerase-associated protein) domain. Cold-induced urticarial rash is among the main clinical features. However, this study identified a series of 14 patients with pathogenic variants of the Y861 residue (p.Tyr861) of the LRR domain of NLRP3 and minimal prevalence of cold-induced urticarial rash. Objectives: This study aimed to address a possible genotype/phenotype correlation for patients with CAPS and to investigate at the cellular levels the impact of the Y861C substitution (p.Tyr861Cys) on NLRP3 activation. Methods: Clinical features of 14 patients with CAPS and heterozygous substitution at position 861 in the LRR domain of NLRP3 were compared to clinical features of 48 patients with CAPS and pathogenic variants outside the LRR domain of NLRP3. IL-1β secretion by PBMCs and purified monocytes from patients and healthy donors was evaluated following LPS and monosodium urate crystal stimulation. Results: Patients with substitution at position 861 of NLRP3 demonstrated a higher prevalence of sensorineural hearing loss while being less prone to skin urticarial. In contrast to patients with classical CAPS, cells from patients with a pathogenic variant at position 861 required an activation signal to secrete IL-1β but produced more IL-1β during the early and late phase of secretion than cells from healthy donors. Conclusions: Pathogenic variants of Y861 of NLRP3 drive a boost-dependent oversecretion of IL-1β associated with an atypical CAPS phenotype. © 2023 American Academy of Allergy, Asthma & Immunology
dc.description.sponsorshipDérégulation de la voie de l'interféron de type I dans la dermatomyosite juvénile: mieux comprendre la physiopathologie pour mieux identifier de nouveaux biomarqueurs pronostiques - ANR-21-CE17-0025en_US
dc.language.isoENen_US
dc.subject.enNLRP3
dc.subject.enCAPS
dc.subject.enInflammasome
dc.subject.enLRR domain
dc.subject.enInterleukin-1
dc.subject.enHear loss
dc.subject.enDeafness
dc.subject.enUrticaria
dc.title.enPathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.jaci.2023.07.006en_US
dc.subject.halSciences du Vivant [q-bio]/Immunologieen_US
dc.identifier.pubmed37506976en_US
bordeaux.journalJournal of Allergy and Clinical Immunologyen_US
bordeaux.page1303-1311.e1en_US
bordeaux.volume152en_US
bordeaux.hal.laboratoriesImmunoConcEpT - UMR 5164en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionCNRSen_US
bordeaux.institutionINSERM
bordeaux.teamGHIGS_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
dc.rights.ccPas de Licence CCen_US
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