PRF1

Pathology

 PRF1 mutations in familial hemophagocytic lymphohistiocytosis (FHL2)

References

 Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation. Danhaive O, Caniglia M, Devito R, Piersigilli F, Corchia C, Auriti C. Acta Paediatr. 2010 May;99(5):778-80. PMID: 20055781

 Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: 16260137

 Raja SM, Metkar SS, Froelich CJ. Cytotoxic granule-mediated apoptosis: unraveling the complex mechanism. Curr Opin Immunol. 2003 Oct;15(5):528-32. PMID: 14499261

 Catalfamo M, Henkart PA. Perforin and the granule exocytosis cytotoxicity pathway. Curr Opin Immunol. 2003 Oct;15(5):522-7. PMID: 14499260

 de Saint Basile G, Fischer A. The role of cytotoxicity in lymphocyte homeostasis. Curr Opin Immunol. 2001 Oct;13(5):549-54. PMID: 11544002

 Kakkar N, Vasishta RK, Banerjee AK, Marwaha RK, Thapa BR. Familial hemophagocytic lymphohistiocytosis: an autopsy study. Pediatr Pathol Mol Med. 2003 May-Jun;22(3):229-42. PMID: 12746174