Publication:
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.departmentTıp Fakültesi
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.contributor.scopusid24072843300
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.
dc.description.sponsorshipTurkish Academy of Sciences European Commission (TUBA)
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.
dc.identifier.endpage1017
dc.identifier.issn0145-2126
dc.identifier.issn1873-5835
dc.identifier.issue8
dc.identifier.pubmed20197201
dc.identifier.scopus2-s2.0-77953614261
dc.identifier.startpage1012
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.volume34
dc.identifier.wos000278601600012
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherPergamon-Elsevier
dc.relation.collaborationYurt içi
dc.relation.collaborationSanayi
dc.relation.journalLeukemia Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.relation.tubitak105S386-SBAG 3193
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectFamilial hemophagocytic lymphohistiocytosis
dc.subjectFHL
dc.subjectPerforin gene
dc.subjectW374X mutation
dc.subjectClinical implications
dc.subjectGenotype-phenotype
dc.subjectFounder effect
dc.subjectTurkish children
dc.subjectOncology
dc.subjectHematology
dc.subject.emtreeAlanine aminotransferase
dc.subject.emtreeAlbumin
dc.subject.emtreeAntibiotic agent
dc.subject.emtreeAspartate aminotransferase
dc.subject.emtreeBilirubin
dc.subject.emtreeCyclosporin
dc.subject.emtreeD dimer
dc.subject.emtreeFerritin
dc.subject.emtreeFibrinogen
dc.subject.emtreeImmunoglobulin
dc.subject.emtreePrednisolone
dc.subject.emtreeSodium
dc.subject.emtreeSteroid
dc.subject.emtreeTriacylglycerol
dc.subject.emtreeUrea
dc.subject.emtreeArticle
dc.subject.emtreeBirth weight
dc.subject.emtreeCentral nervous system
dc.subject.emtreeClinical article
dc.subject.emtreeConsanguinity
dc.subject.emtreeErythrocyte transfusion
dc.subject.emtreeFemale
dc.subject.emtreeFerritin blood level
dc.subject.emtreeFfibrinogen blood level
dc.subject.emtreeGene mutation
dc.subject.emtreeGenotype phenotype correlation
dc.subject.emtreeHaplotype
dc.subject.emtreeHemophagocytic lymphohistiocytosis
dc.subject.emtreeHomozygosity
dc.subject.emtreeHuman
dc.subject.emtreeHyperferritinemia
dc.subject.emtreeHypertriglyceridemia
dc.subject.emtreeHypofibrinogenemia
dc.subject.emtreeInfant
dc.subject.emtreeLiver dysfunction
dc.subject.emtreeMale
dc.subject.emtreePancytopenia
dc.subject.emtreePriority journal
dc.subject.emtreeSepsis
dc.subject.emtreeThrombocyte transfusion
dc.subject.meshConsanguinity
dc.subject.meshFemale
dc.subject.meshFerritins
dc.subject.meshFibrinogen
dc.subject.meshHomozygote
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshInfant, newborn
dc.subject.meshLymphohistiocytosis, hemophagocytic
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPrognosis
dc.subject.scopusHemophagocytic Lymphohistiocytosis; Macrophage Activation Syndrome; Juvenile Arthritis
dc.subject.wosOncology
dc.subject.wosHematology
dc.titleAssessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation
dc.typeArticle
dc.wos.quartileQ3 (Hematology)
dc.wos.quartileQ2 (Oncology)
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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