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

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

  • By

  • Eman T. Al-Antary

  • Avanti Gupte

  • Süreyya Savaşan

  • June 24, 2026

  • 0 min

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  • 1

    Familial HLH is an autosomal recessive condition linked to mutations in genes affecting the secretory lysosome-dependent exocytosis pathway.

  • 2

    A novel homozygous PRF1 mutation variant p.Y296C c.887 A>G was identified in a pediatric patient with familial HLH.

  • 3

    The patient exhibited significant skeletal muscle findings and was diagnosed with primary HLH fulfilling HLH-2004 criteria.

  • 4

    The patient responded to treatment with dexamethasone and underwent matched sibling donor hematopoietic stem cell transplantation.

  • 5

    This case is the first report of the homozygous PRF1 mutation p.Y296C associated with primary HLH, identified years before clinical onset.

Original Source(s)

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

  • by Eman T. Al-Antary, Avanti Gupte, Süreyya Savaşan

  • June 24, 2026

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