Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.

Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of life-threatening inflammation caused by an excessive, prolonged and ineffective immune response. An increasing number of HLH cases is recognized in Poland, but the genetic causes of familial HLH (FHL) have not been reported. We investigated the molecular genetics and associated outcomes of pediatric patients who met HLH criteria.

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia.

Although a growing body of data links mutations in the perforin gene with increased susceptibility to hematologic malignancies, no studies discuss their influence on the clinical course of such diseases. The present study examines the impact of perforin gene variation on the clinical outcome in acute lymphoblastic leukemia (ALL) patients. The study enrolled 312 children aged 1-18 years, treated for ALL.