Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation

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dc.contributor.authorBalta, Günay
dc.contributor.authorOkur, Hamza
dc.contributor.authorÜnal, Şule
dc.contributor.authorYaralı, Neşe
dc.contributor.authorÜnal, Selma
dc.contributor.authorTürker, Meral
dc.contributor.authorGüler, Elif
dc.contributor.authorErtem, Mehmet
dc.contributor.authorAlbayrak, Meryem
dc.contributor.authorPatıroğlu, Türkan
dc.contributor.authorGürgey, Aytemiz
dc.contributor.buuauthorGüneş, Adalet Meral
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.scopusid24072843300tr_TR
dc.date.accessioned2022-09-02T10:50:40Z
dc.date.available2022-09-02T10:50:40Z
dc.date.issued2010-08
dc.description.abstractHomozygous 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.en_US
dc.description.sponsorshipTurkish Academy of Sciences European Commission (TUBA)en_US
dc.identifier.citationBalta, G. vd. (2010). "Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation". Leukemia Research, 34(8), 1012-1017.en_US
dc.identifier.endpage1017tr_TR
dc.identifier.issn0145-2126
dc.identifier.issn1873-5835
dc.identifier.issue8tr_TR
dc.identifier.pubmed20197201tr_TR
dc.identifier.scopus2-s2.0-77953614261tr_TR
dc.identifier.startpage1012tr_TR
dc.identifier.urihttps://doi.org/10.1016/j.leukres.2010.02.002
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S0145212610000809
dc.identifier.urihttp://hdl.handle.net/11452/28438
dc.identifier.volume34tr_TR
dc.identifier.wos000278601600012
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherPergamon-Elsevieren_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalLeukemia Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.relation.tubitak105S386-SBAG 3193tr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial hemophagocytic lymphohistiocytosisen_US
dc.subjectFHLen_US
dc.subjectPerforin geneen_US
dc.subjectW374X mutationen_US
dc.subjectClinical implicationsen_US
dc.subjectGenotype-phenotypeen_US
dc.subjectFounder effecten_US
dc.subjectTurkish childrenen_US
dc.subjectOncologyen_US
dc.subjectHematologyen_US
dc.subject.emtreeAlanine aminotransferaseen_US
dc.subject.emtreeAlbuminen_US
dc.subject.emtreeAntibiotic agenten_US
dc.subject.emtreeAspartate aminotransferaseen_US
dc.subject.emtreeBilirubinen_US
dc.subject.emtreeCyclosporinen_US
dc.subject.emtreeD dimeren_US
dc.subject.emtreeFerritinen_US
dc.subject.emtreeFibrinogenen_US
dc.subject.emtreeImmunoglobulinen_US
dc.subject.emtreePrednisoloneen_US
dc.subject.emtreeSodiumen_US
dc.subject.emtreeSteroiden_US
dc.subject.emtreeTriacylglycerolen_US
dc.subject.emtreeUreaen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBirth weighten_US
dc.subject.emtreeCentral nervous systemen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeConsanguinityen_US
dc.subject.emtreeErythrocyte transfusionen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFerritin blood levelen_US
dc.subject.emtreeFfibrinogen blood levelen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenotype phenotype correlationen_US
dc.subject.emtreeHaplotypeen_US
dc.subject.emtreeHemophagocytic lymphohistiocytosisen_US
dc.subject.emtreeHomozygosityen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHyperferritinemiaen_US
dc.subject.emtreeHypertriglyceridemiaen_US
dc.subject.emtreeHypofibrinogenemiaen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeLiver dysfunctionen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreePancytopeniaen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeSepsisen_US
dc.subject.emtreeThrombocyte transfusionen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshFemaleen_US
dc.subject.meshFerritinsen_US
dc.subject.meshFibrinogenen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, newbornen_US
dc.subject.meshLymphohistiocytosis, hemophagocyticen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPrognosisen_US
dc.subject.scopusHemophagocytic Lymphohistiocytosis; Macrophage Activation Syndrome; Juvenile Arthritisen_US
dc.subject.wosOncologyen_US
dc.subject.wosHematologyen_US
dc.titleAssessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutationen_US
dc.typeArticle
dc.wos.quartileQ3 (Hematology)en_US
dc.wos.quartileQ2 (Oncology)en_US

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