Журнал болезней крови и переливания крови

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Genetic Hemophagocytic Lymphohistiocytosis with Syntaxin Gene Mutation

Rabia Ahmad, Asma Akhter, Ambereen Anwar, Ahmad Saleem

We report a case of 5-year-old male who presented with off and on fever and bleeding. On examination he had oral ulcers and hepatosplenomegaly. One of his brothers who died at the age of one year, had similar complaints. Bone marrow examination of the child revealed hemophagocytosis. He was subsequently diagnosed as having Hemophagocytic Lymphohistiocytosis and next generation sequencing identified a rare 173T>C;p.Leu58Pro mutation in STX11genes in homozygous state resulting in familial or genetic HLH.