| Missense mutation in PRF1 gene, probably recessive |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (A;G)
|
1.8
|
Missense mutation in PRF1 gene, probably recessive
|
| (G;G)
|
5
|
Familial Hemophagocytic Lymphohistiocytosis and Lymphoma
|
Probably benign when heterozygous (i.e. recessive), but in at least one case, compound heterozygosity with the Fas allele led to autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma in a patient with a mutant PRF1 gene (which mutation is not clear). This is a missense mutation in the perforin (PRF1) gene.
