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familial hemophagocytic lymphohistiocytosis type 2 (HPLH2)
Epidemiology:
- rare
Pathology:
1) excessive immune activation
2) dysregulation of lymphocyte homeostasis
3) nonmalignant accumulation & multivisceral infiltration of activated T-lymphocytes and histiocytes (macrophages)
Genetics:
1) autosomal recessive
2) 10q21-22 locus, nonsense & missense mutations in perforin gene seen
Clinical manifestations:
- disorder of early childhood
Related
perforin-1; P1; lymphocyte pore-forming protein; PFP; cytolysin (PRF1 PFP)
General
familial histiocytic reticulosis; familial hemophagocytic reticulosis; familial hemophagocytic lymphohistiocytosis; familial erythrophagocytic lymphohistiocytosis
Database Correlations
OMIM 603553
References
- Stepp SE et al
Perforin gene defects in familial hemophagocytic
lymphohistiocytosis.
Science 286:1957-9, 1999
PMID: 10583959