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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Aplastic anemia
PRF1
Familial hemophagocytic lymphohistiocytosis 2
PRF1

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
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