Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report
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Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin-binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic ... ...
