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 (me...

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Veröffentlicht in:	Leukemia research 2010-08, Vol.34 (8), p.1012-1017
Hauptverfasser:	Balta, Gunay, Okur, Hamza, Unal, Sule, Yaralı, Nese, Gunes, Adalet Meral, Unal, Selma, Turker, Meral, Guler, Elif, Ertem, Mehmet, Albayrak, Meryem, Patiroglu, Turkan, Gurgey, Aytemiz
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical implications Consanguinity Familial hemophagocytic lymphohistiocytosis Female Ferritins - metabolism FHL Fibrinogen - metabolism Founder effect Genotype–phenotype Hematology, Oncology and Palliative Medicine Homozygote Humans Infant Infant, Newborn Lymphohistiocytosis, Hemophagocytic - drug therapy Lymphohistiocytosis, Hemophagocytic - genetics Lymphohistiocytosis, Hemophagocytic - pathology Male Mutation - genetics Perforin gene Prognosis W374X mutation
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