Familial haemophagocytic lymphohistiocytosis type 1

Familial hemophagocytic lymphohistiocytosis is a lethal disorder of immune regulation. It is a disorder of early childhood characterized by excessive, uncontrolled T-lymphocyte and macrophage activation. Infiltration of the liver, spleen, bone marrow, and central nervous system by activated T cells and macrophages results in a multisystem disorder.

Alternative names

FHL1, HLH1, HPLH1

Familial erythrophagocytic lymphohistiocytosis

Familial histiocytic reticulosis

Classification

  • Defects of phagocyte function
    • Familial haemophagocytic lymphohistiocytosis
      • Familial haemophagocytic lymphohistiocytosis type 1

Inheritance

Autosomal recessive

OMIM

#267700 Reticulosis, familial histiocytic

%603552 Hemophagocytic lymphohistiocytosis, familial, 1

Incidence

1:50,000 births