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BackgroundUNC13D, 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...
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