New England Journal of Medicine · 2004 · 39 citations · 20 references
MedicineHematologyPediatricsHematopathologyPediatric HematologyTransfusion MedicineBone Marrow PathologyHematologic DisordersHematologic PathologyHistiocytic DisordersPlatelet DisordersPlatelet TransfusionPediatric Immune ThrombocytopeniaPediatric ThrombocytopeniaPlatelet Transfusion In Thrombocytopenia
Newborn identical twin boys had thrombocytopenia, leukopenia, and hepatosplenomegaly. Platelet transfusions were ineffective. Screening for infections was negative. Bone marrow aspiration showed a single hemophagocytic histiocyte. Despite medical management, the patients' condition continued to worsen. A diagnostic procedure was performed.
20
Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations
Life Sciences, Genetics, Immunology +15