Pediatric Hematology and Oncology · 2003 · 53 citations · 9 references
MedicineHematologyPediatricsHematopathologyHuman GeneticsPediatric HematologyBone Marrow PathologyClinical HematologyHematologic DisordersHematologic MalignanciesHematologic PathologyPediatric HematopathologyConsanguineous MarriageFamilial Hemophagocytic LymphohistiocytosisHemophagocytosis In Bone MarrowPediatric Bone Marrow DisordersPostmortem Examination FindingsSplenic Biopsy
Nineteen children with hemophagocytic lymphohistiocytosis (HLH) were studied in the Department of Pediatric Hematology, Hacettepe University. Patients were divided into two groups. Group 1: Thirteen patients were classified as having a genetic etiology (7 familial, 6 presumed familial) on the basis of an affected sibling and consanguinity. There was a history of consanguineous marriage in 13 of the families. Seven of them had a history of a sibling with HLH. Group 2: Six patients were diagnosed with sporadic HLH. The age at presentation for familial patients was 0.7-84 months (mean 21.9 +/- 24.9 months), and for sporadic cases it was 2.5-48 months (mean 22.7 +/- 19.8 months). The clinical and laboratory data of these two groups were similar at diagnosis. Thirteen cases were diagnosed premortem by bone marrow aspiration. Splenic biopsy was performed in 2 patients. Four patients were diagnosed by postmortem examination. Elevated LDH levels were found in all patients tested. No significant differences for clinical and laboratory data were found between the two groups.
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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations
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Hypercytokinemia in familial hemophagocytic lymphohistiocytosis
Göran Elinder, Olle Söder, Magnus Hansson et al. · Blood · 1991 · 507 citations · Full text
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Incidence in Sweden and Clinical Features of Familial Hemophagocytic Lymphohistiocytosis
Jan‐Inge Henter, Göran Elinder, Olle Söder et al. · Acta Paediatrica · 1991 · 451 citations
Medicine, Pathology, Pediatrics +8