ArticleFrontiers in immunology2026
Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 reported in the literature to be associated with primary HLH. In this case, we also hypothesize that the phenomenon of immunoporosis contributed to the significant skeletal muscle findings reported in our patient.
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