Case Report: Munc13–4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing
BackgroundThe UNC13D gene encodes Munc13-4, a critical regulator of cytotoxic granule exocytosis in lymphocytes and the protein responsible for familial hemophagocytic lymphohistiocytosis (FHL). As an essential mediator of perforin release from cytotox…