Balta, GünayOkur, HamzaÜnal, ŞuleYaralı, NeşeÜnal, SelmaTürker, MeralGüler, ElifErtem, MehmetAlbayrak, MeryemPatıroğlu, TürkanGürgey, Aytemiz2022-09-022022-09-022010-08Balta, G. vd. (2010). "Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation". Leukemia Research, 34(8), 1012-1017.0145-21261873-5835https://doi.org/10.1016/j.leukres.2010.02.002https://www.sciencedirect.com/science/article/pii/S0145212610000809http://hdl.handle.net/11452/28438Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.eninfo:eu-repo/semantics/closedAccessFamilial hemophagocytic lymphohistiocytosisFHLPerforin geneW374X mutationClinical implicationsGenotype-phenotypeFounder effectTurkish childrenOncologyHematologyConsanguinityFemaleFerritinsFibrinogenHomozygoteHumansInfantInfant, newbornLymphohistiocytosis, hemophagocyticMaleMutationPrognosisArticle0002786016000122-s2.0-779536142611012101734820197201OncologyHematologyHemophagocytic Lymphohistiocytosis; Macrophage Activation Syndrome; Juvenile ArthritisAlanine aminotransferaseAlbuminAntibiotic agentAspartate aminotransferaseBilirubinCyclosporinD dimerFerritinFibrinogenImmunoglobulinPrednisoloneSodiumSteroidTriacylglycerolUreaArticleBirth weightCentral nervous systemClinical articleConsanguinityErythrocyte transfusionFemaleFerritin blood levelFfibrinogen blood levelGene mutationGenotype phenotype correlationHaplotypeHemophagocytic lymphohistiocytosisHomozygosityHumanHyperferritinemiaHypertriglyceridemiaHypofibrinogenemiaInfantLiver dysfunctionMalePancytopeniaPriority journalSepsisThrombocyte transfusion