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Updated: May 15, 2025

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
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Genetics of Familial Hemophagocytic Lymphohistiocytosis (HLH)

Kejian Zhang1, Lauren K Meyer2, Rafal Machowicz3

  • 1GoBroad Hospital, GoBroad Healthcare Group, Beijing, China.

Hematology/Oncology Clinics of North America
|April 8, 2025
PubMed

Familial hemophagocytic lymphohistiocytosis (fHLH) represents a group of rare, inherited immune system disorders characterized by uncontrolled inflammatory responses. fHLH results from genetic mutations that impair CD8 T cell and natural killer cell cytotoxicity. Without treatment, fHLH is commonly fatal, but early diagnosis and treatment, including immunosuppressive therapy, and in many cases, an allogeneic hematopoietic stem cell transplant (HSCT), can improve overall outcomes. Genetic testing is critical for confirming the diagnosis, identifying specific gene mutations, assessing family members for carrier status or disease risk, and informing donor selection for HSCT.

Keywords:
DiagnosisFamilialGenetic counselingGenetic testingGeneticsGenotype-phenotype correlationsHLHVariant

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