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A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13‐4 function

UNC13D, encoding the protein munc13‐4, is essential in intracellular trafficking and exocytosis of lytic granules. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3 (FHL3), a genetically heterogeneous, rare autosomal recessive immune disorder. How mutations affect function of munc13‐4 is poorly understood. Since 2006 we genetically identified seven FHL patients with mutations in UNC13D.