Perforin-1
The PRF1 gene encodes a protein which resemples complement factot 9 nad therefore suposedly play a role in cell lysis. Mutations result in autosomal recessive familial hemophagocytic lymphohistiocytosis 2.
Genetests:
Related Diseases:
References:
1. |
Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
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2. |
Busiello R et al. (2004) Atypical features of familial hemophagocytic lymphohistiocytosis.
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3. |
Molleran Lee S et al. (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
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4. |
Zur Stadt U et al. (2004) A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.
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5. |
Voskoboinik I et al. (2004) The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.
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6. |
Clementi R et al. (2004) Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
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7. |
Rieux-Laucat F et al. (2005) Autoimmune lymphoproliferative syndrome and perforin.
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8. |
Clementi R et al. (2005) A proportion of patients with lymphoma may harbor mutations of the perforin gene.
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9. |
Voskoboinik I et al. (2005) A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
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10. |
Ueda I et al. (2003) Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
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11. |
Risma KA et al. (2006) Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
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12. |
Clementi R et al. (2006) Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
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13. |
Solomou EE et al. (2007) Perforin gene mutations in patients with acquired aplastic anemia.
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14. |
Voskoboinik I et al. (2007) Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function.
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15. |
Trizzino A et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
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16. |
Law RH et al. (2010) The structural basis for membrane binding and pore formation by lymphocyte perforin.
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17. |
Chiapparini L et al. (2011) Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.
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18. |
Dias C et al. (2013) Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
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19. |
Wagner R et al. (1995) A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family.
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20. |
Badovinac VP et al. (2000) Regulation of antigen-specific CD8+ T cell homeostasis by perforin and interferon-gamma.
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21. |
Fink TM et al. (1992) Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10.
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22. |
Trapani JA et al. (1990) Genomic organization of the mouse pore-forming protein (perforin) gene and localization to chromosome 10. Similarities to and differences from C9.
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23. |
Shinkai Y et al. (1989) Molecular cloning and chromosomal assignment of a human perforin (PFP) gene.
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24. |
Stanley K et al. (1988) Perforin. A family of killer proteins.
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25. |
Shinkai Y et al. (1988) Homology of perforin to the ninth component of complement (C9).
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26. |
Podack ER et al. (1988) Structure, function and expression of murine and human perforin 1 (P1).
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27. |
Lichtenheld MG et al. (1988) Structure and function of human perforin.
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28. |
Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.
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29. |
Lowin B et al. (1994) A null mutation in the perforin gene impairs cytolytic T lymphocyte- and natural killer cell-mediated cytotoxicity.
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30. |
Binder D et al. (1998) Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus.
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31. |
Matloubian M et al. (1999) A role for perforin in downregulating T-cell responses during chronic viral infection.
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32. |
Stepp SE et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
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33. |
Smyth MJ et al. (2000) Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma.
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34. |
Göransdotter Ericson K et al. (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
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35. |
Clementi R et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.
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36. |
McCormick J et al. (2003) Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
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Update: Aug. 14, 2020