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

Leukemia Research

Volumn 34, Issue 8, 2010, Pages 1012-1017

  Balta, Gunay ^a   Okur, Hamza ^a   Unal, Sule ^a   Yarali, Nese ^b   Gunes, Adalet Meral ^c   Unal, Selma ^d   Turker, Meral ^e   Guler, Elif ^f   Ertem, Mehmet ^g   Albayrak, Meryem ^h   Patiroglu, Turkan ⁱ   Gurgey, Aytemiz ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Diskapi Education and Research Hospital   (Turkey)

^c ULUDAG UNIVERSITY   (Turkey)

^d MERSIN UNIVERSITY   (Turkey)

^e Department of Pediatrics   (Turkey)

^f GAZIANTEP UNIVERSITY   (Turkey)

^g ANKARA UNIVERSITY   (Turkey)

^h GAZI UNIVERSITY   (Turkey)

ⁱ ERCIYES UNIVERSITY   (Turkey)

Author keywords

Clinical implications; Familial hemophagocytic lymphohistiocytosis; FHL; Founder effect; Genotype phenotype; Perforin gene; W374X mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ANTIBIOTIC AGENT; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CYCLOSPORIN; D DIMER; FERRITIN; FIBRINOGEN; IMMUNOGLOBULIN; PREDNISOLONE; SODIUM; STEROID; TRIACYLGLYCEROL; UREA;

ARTICLE; BIRTH WEIGHT; CENTRAL NERVOUS SYSTEM; CLINICAL ARTICLE; CONSANGUINITY; ERYTHROCYTE TRANSFUSION; FEMALE; FERRITIN BLOOD LEVEL; FIBRINOGEN BLOOD LEVEL; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; HYPERFERRITINEMIA; HYPERTRIGLYCERIDEMIA; HYPOFIBRINOGENEMIA; INFANT; LIVER DYSFUNCTION; MALE; PANCYTOPENIA; PRIORITY JOURNAL; SEPSIS; THROMBOCYTE TRANSFUSION;

CONSANGUINITY; FEMALE; FERRITINS; FIBRINOGEN; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUTATION; PROGNOSIS;

EID: 77953614261     PISSN: 01452126     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.leukres.2010.02.002     Document Type: Article

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