| Familial Hemophagocytic Lymphohistiocytosis and Lymphoma |
| 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
|
This mutation codes for a missense mutation in the perforin (PRF1) gene. It is suspected to be pathogenic. Most research suggests that it follows a recessive model, but in at least one case, a patient with heterozygous mutations in both PRF1 and FAS developed autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma.
In most cases, a single G allele may be benign, but more research is needed.
