familial hemophagocytic lymphohistiocytosis type 4 (HPLH4)

Epidemiology

rare

Pathology

• immune dysregulation
• hypercytokinemia
• defective natural killer cell function
• hemophagocytosis
• non-malignant infiltration of macrophages & activated T lymphocytes in lymph nodes, spleen, & other organs

Genetics

• genetically heterogeneous
• autosomal recessive
• associated with defects in STX11

Clinical manifestations

• fever
• hepatosplenomegaly
• variable neurological abnormalities
  • irritability
  • hypotonia
  • seizures
  • cranial nerve deficits
  • ataxia

Laboratory

• complete blood count: cytopenia
• serum triglycerides: hypertriglyceridemia
• plasma fibrinogen: hypofibrinogenemia

More general terms

• familial histiocytic reticulosis

Database

• OMIM: https://mirror.omim.org/entry/603552