Familial haemophagocytic lymphohistiocytosis type 2

Defects in PRF1 are a cause of familial hemophagocytic lymphohistiocytosis type 2, a rare and lethal autosomal recessive disorder of early childhood characterized by excessive immune activation. Patients have a nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages).

Alternative names

FHL2

HPLH2, HLH

Familial erythrophagocytic lymphohistiocytosis 2

Familial histiocytic reticulosis 2

Hemophagocytic lymphohistiocytosis

Classification

  • Defects of phagocyte function
    • Familial haemophagocytic lymphohistiocytosis
      • Familial haemophagocytic lymphohistiocytosis type 2

Inheritance

Autosomal recessive

OMIM

#267700 Reticulosis, familial histiocytic

*170280 Perforin 1; PRF1

Incidence

1:50,000 births