familial hemophagocytic lymphohistiocytosis type 2 (HPLH2)
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Epidemiology
- rare
Pathology
- excessive immune activation
- dysregulation of lymphocyte homeostasis
- nonmalignant accumulation & multivisceral infiltration of activated T-lymphocytes and histiocytes (macrophages)
Genetics
- autosomal recessive
- 10q21-22 locus, nonsense & missense mutations in perforin gene seen
Clinical manifestations
- disorder of early childhood
More general terms
Additional terms
References
- ↑ Stepp SE et al Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957-9, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10583959