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Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants

dc.rights.licenseopenen_US
dc.contributor.authorBLOCH, Coralie
dc.contributor.authorBOUBAYA, Marouane
dc.contributor.authorLEPELLETIER, Yves
dc.contributor.authorCHEMINANT, Morgane
dc.contributor.authorSUAREZ, Felipe
dc.contributor.authorHERMINE, Olivier
dc.contributor.authorMAHLAOUI, Nizar
dc.contributor.authorLORTHOLARY, Olivier
dc.contributor.authorFISCHER, Alain
dc.contributor.authorDE SAINT BASILE, Geneviève
dc.contributor.authorJAIS, Jean Philippe
dc.contributor.authorGIL, Marine
dc.contributor.authorBADER-MEUNIER, Brigitte
dc.contributor.authorGARCELON, Nicolas
dc.contributor.authorALCAIS, Alexandre
dc.contributor.authorLAMBOTTE, Olivier
dc.contributor.authorLAUNAY, David
dc.contributor.authorTERRIOU, Louis
dc.contributor.authorLARROCHE, Claire
hal.structure.identifierImmunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept]
dc.contributor.authorLAZARO, Estibaliz
dc.contributor.authorVIALLARD, Jean-Francois
dc.contributor.authorLIFFERMANN, Francois
dc.contributor.authorMICHEL, Marc
dc.contributor.authorMICHOT, Jean-Marie
dc.contributor.authorMOREL, Pierre
dc.contributor.authorURBANSKI, Geoffrey
dc.contributor.authorBONNET, Fabrice
dc.contributor.authorGODEMER, Pascal
dc.contributor.authorGANDHI, Damaj
dc.contributor.authorFAIN, Olivier
dc.contributor.authorPENE, Frederic
dc.contributor.authorPERLAT, Antoinette
dc.date.accessioned2025-01-30T09:29:10Z
dc.date.available2025-01-30T09:29:10Z
dc.date.issued2024-01
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204657
dc.description.abstractEnThe contribution of genetic factors to the severity of adult hemophagocytic lymphohistiocytosis (HLHa) remains unclear. Objective: We sought to assess a potential link between HLHa outcomes and HLH-related gene variants. Methods: Clinical characteristics of 130 HLHa patients (age ≥ 18 years and HScore ≥ 169) and genotype of 8 HLH-related genes (LYST, PRF1, UNC13-D, STX11, STXBP2, RAB27A, XIAP, and SAP) were collected. A total of 34 variants found in only 6 genes were selected on the basis of their frequency and criteria predicted to impair protein function. Severity was defined by refractory disease to HLH treatment, death, or transfer to an intensive care unit. Results: HLHa-associated diseases (ADs) were neoplasia (n = 49 [37.7%]), autoimmune/inflammatory disease (n = 33 [25.4%]), or idiopathic when no AD was identified (n = 48 [36.9%]). Infectious events occurred in 76 (58.5%) patients and were equally distributed in all ADs. Severe and refractory HLHa were observed in 80 (61.5%) and 64 (49.2%) patients, respectively. HScore, age, sex ratio, AD, and infectious events showed no significant association with HLHa severity. Variants were identified in 71 alleles and were present in 56 (43.1%) patients. They were distributed as follows: 44 (34.4%), 9 (6.9%), and 3 (2.3%) patients carrying 1, 2, and 3 variant alleles, respectively. In a logistic regression model, only the number of variants was significantly associated with HLHa severity (1 vs 0: 3.86 [1.73-9.14], P =.0008; 2-3 vs 0: 29.4 [3.62-3810], P =.0002) and refractoriness (1 vs 0: 2.47 [1.17-5.34], P =.018; 2-3 vs 0: 13.2 [2.91-126.8], P =.0003). Conclusions: HLH-related gene variants may be key components to the severity and refractoriness of HLHa.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enHemophagocytic lymphohistiocytosis (HLH)
dc.subject.enHLHrelated gene variants
dc.subject.enAdult secondary HLH
dc.subject.enSevere HLH in adults
dc.title.enSevere adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.jaci.2023.07.023en_US
dc.subject.halSciences du Vivant [q-bio]/Immunologieen_US
dc.identifier.pubmed37678575en_US
bordeaux.journalJournal of Allergy and Clinical Immunologyen_US
bordeaux.page256 – 264en_US
bordeaux.volume153en_US
bordeaux.hal.laboratoriesImmunoConcEpT - UMR 5164en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionCNRSen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
dc.rights.ccCC BY-NC-NDen_US
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