Familial Hemophagocytic Lymphohistiocytosis Type 3: Early Disease Onset and Unusual Manifestation in Sibling Cases (Letter)

摘要

Dear Editor, Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disease characterized by a heterogeneous spectrum of various causes, which leads to uncontrollable cytokine storm, and activation of lymphocytes and macrophages (1). Munc13-4 is a crucial effecter of the exocytosis of cytotoxic granules priming cytotoxic granule fusion, and UNC13D gene mutations result in defective cellular cytotoxicity and FHL type 3 (FHL3) disease onset (2)...