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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
General
familial histiocytic reticulosis; familial hemophagocytic reticulosis; familial hemophagocytic lymphohistiocytosis; familial erythrophagocytic lymphohistiocytosis
Database Correlations
OMIM 603552
References
OMIM :accession 603552