Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis Revisited

Medicine, Pediatrics, Hematology, Life Sciences, Immunology, Genetics,
Familial Hemophagocytic Lymphohistiocytosis   Diagnostic Criteria   HLH-2004   Cellular Cytotoxicity Assays   Genetic Diagnosis  

Revisited Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis (FHL) Based on HLH-2004: Updates to Diagnostic Criteria and Development of Multipathway Diagnostic Strategies Introduction Familial hemophagocytic lymphohistiocytosis (FHL) is a severe hyperinflammatory disease characterized by abnormal accumulation of macrophages and l...

Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Medicine, Neurology, Life Sciences, Biochemistry, Genetics,
Primary Familial Brain Calcification   Genetic Variants   5' UTR   Protein Expression   Reporter Assay   Pathogenic Variants   Genetic Diagnosis  

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...