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Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

dc.rights.licenseopenen_US
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCIC Bordeaux
hal.structure.identifierCentre de Référence National des Cytopénies Auto-immunes de l'Enfant [CEREVANCE]
dc.contributor.authorBIANCHI, Chloé
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMARGOT, Henri
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCIC Bordeaux
hal.structure.identifierCentre de Référence National des Cytopénies Auto-immunes de l'Enfant [CEREVANCE]
dc.contributor.authorFERNANDES, Helder
dc.contributor.authorPASQUET, Marlène
dc.contributor.authorPRIQUELER, Laurence
dc.contributor.authorROY-PEAUD, Frédérique
dc.contributor.authorBAUDUER, Frédéric
dc.contributor.authorBAYART, Sophie
dc.contributor.authorGARNIER, Nathalie
dc.contributor.authorFAIN, Olivier
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
dc.contributor.authorJOLY, Sandrine Baron
dc.contributor.authorRIALLAND, Fanny
dc.contributor.authorPAILLARD, Catherine
dc.contributor.authorDEPARIS, Marianna
dc.contributor.authorLAMBILLIOTTE, Anne
dc.contributor.authorLEBLANC, Thierry
dc.contributor.authorFAHD, Mony
dc.contributor.authorLEVERGER, Guy
dc.contributor.authorHÉRITIER, Sébastien
dc.contributor.authorGENEVIÈVE, David
dc.contributor.authorRIEUX-LAUCAT, Frédéric
dc.contributor.authorPICARD, Capucine
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCIC Bordeaux
hal.structure.identifierCentre de Référence National des Cytopénies Auto-immunes de l'Enfant [CEREVANCE]
dc.contributor.authorNEYRAUD, Caroline
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCIC Bordeaux
hal.structure.identifierCentre de Référence National des Cytopénies Auto-immunes de l'Enfant [CEREVANCE]
dc.contributor.authorALADJIDI, Nathalie
dc.date.accessioned2025-02-21T10:03:34Z
dc.date.available2025-02-21T10:03:34Z
dc.date.issued2024-05-01
dc.identifier.issn1365-2141en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/205089
dc.description.abstractEnKabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome. All had other associated immunopathological manifestations, mainly symptomatic hypogammaglobinaemia. They had a median of 8 (5-10) KS-associated manifestations. Pathogenic variants were detected in KMT2D gene without clustering, during the immunological work-up of AIC in three cases, and the clinical strategy to validate them is emphasized. Eight patients received second-line treatments, mainly rituximab and mycophenolate mofetil. With a median follow-up of 17 (2-31) years, 8/10 alive patients still needed treatment for AIC. First-line paediatricians should be able to recognize and confirm KS in children with ITP or multiple AIC, to provide early appropriate clinical management and specific long-term follow-up. The epigenetic immune dysregulation in KS opens exciting new perspectives.
dc.language.isoENen_US
dc.subject.enEvans syndrome
dc.subject.enKabuki syndrome
dc.subject.enChildhood ITP
dc.subject.enImmune thrombocytopenic purpura
dc.subject.enInherited errors of immunity
dc.title.enAutoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
dc.title.alternativeBr J Haematolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/bjh.19387en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38432067en_US
bordeaux.journalBritish Journal of Haematologyen_US
bordeaux.page1899-1907en_US
bordeaux.volume204en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDAssociation Bordelaise pour l'Avancement des Sciences Pediatriquesen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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