title: Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
abstract: Homozygous 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 (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
authors.affiliation: Hacettepe University, Department of Pediatrics, Section of Pediatric Hematology, Ankara, Turkey.
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Hamza
authors.initials: H
authors.lastname: Okur
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Nese
authors.initials: N
authors.lastname: Yarali
authors.forename: Adalet Meral
authors.initials: AM
authors.lastname: Gunes
authors.forename: Selma
authors.initials: S
authors.lastname: Unal
authors.forename: Meral
authors.initials: M
authors.lastname: Turker
authors.forename: Elif
authors.initials: E
authors.lastname: Guler
authors.forename: Mehmet
authors.initials: M
authors.lastname: Ertem
authors.forename: Meryem
authors.initials: M
authors.lastname: Albayrak
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D003241:Consanguinity; D005260:Female; D005293:Ferritins / Q000378:metabolism; D005340:Fibrinogen / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis
chemical_list: D005340:Fibrinogen; D005293:Ferritins