Familial haemophagocytic lymphohistiocytosis type 4

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

FHL4, FHLH

HPLH4, HLH; Familial erythrophagocytic lymphohistiocytosis 4; Familial histiocytic reticulosis 4; Hemophagocytic lymphohistiocytosis

Classification

  • Phagocytic disorders
    • Familial haemophagocytic lymphyohistiocytosis

ICD code

ICD D76.1

Inheritance

Autosomal recessive

OMIM

#267700 Reticulosis, familial histiocytic

%603552 Hemophagocytic lymphohistiocytosis, familial, 1

*605014 Syntaxin 11; STX11

Incidence

1:50,000