Familial hemophagocytic lymphohistiocytosis is a life-threatening inflammatory syndrome characterized by histiocytosis, low or absent NK cell activity, and an excess of released cytokines. The severity and progression of untreated disease leads to a median survival of less than two months, with the majority of deaths caused by uncontrolled invasive infections. There is a predisposition to suffer EBV infections, but other viral or bacterial infections can also occur. Clinical diagnostic criteria are confirmed by genetic testing, which explain approximately 45% of HLH patients, whereas 55% of the cases could be categorized as sporadic HLH with a complex origin.
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