Familial hemophagocytic lymphohistiocytosis 3

Defects in UNC13d are a cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3). FHL3 is phenotypically homogeneous and indistinguishable from HPLH2/FHL2. Patients have a nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages). Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity.

Alternative names

HPLH3

FHL3

Familial erythrophagocytic lymphohistiocytosis type 3

Familial histiocytic reticulosis 3

Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis/UNC13D

Classification

  • Defects of phagocyte function
    • Familial haemophagocytic lymphohistiocytosis, FHL3

Inheritance

Autosomal recessive

OMIM

#608898 Hemophagocytic lymphohistiocytosis, familial, 3; HPLH3

*608897 UNC13D

Incidence

1:50,000 births