Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti M, Biondi A, Fagioli F, Moretta L, Griffiths G, Luzzatto L, Aricò M. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. Journal Of Allergy And Clinical Immunology 2015, 137: 188-196.e4. PMID: 26342526, PMCID: PMC4699615, DOI: 10.1016/j.jaci.2015.06.048.Peer-Reviewed Original ResearchConceptsFamilial hemophagocytic lymphohistiocytosisHemophagocytic lymphohistiocytosisCases of familial hemophagocytic lymphohistiocytosisBiallelic pathogenic mutationsAffecting mostly childrenYears of experienceLife-threatening diseasePerforin expressionGenes PRF1Gene dosage effectMonoallelic mutationsRare conditionItalian RegistryGenetic abnormalitiesGenetic predispositionGenetic diagnosisPathogenic basisHyperinflammatory featuresPathogenic mutationsPatientsCytotoxicity assayExogenous triggersGenetic factorsLymphohistiocytosisRegistry
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