Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum.

Abstract excerpt

Familial HLH is an autosomal recessive condition characterized by mutations in genes responsible for the secretory lysosome-dependent exocytosis pathway. Its diagnosis is often challenging to complex clinical presentation, and prompt treatment is essential to avoid fatal outcomes. We describe a novel PRF1 mutation variant p.Y296C c.887 A>G in a pediatric patient with familial HLH (FHL2), which has not yet been...

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