HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Alloantigen-specific CTL-mediated cytotoxicity was deficient in FHL2 patients with PRF1 nonsense mutations, was very low in FHL3 patients, but was only moderately reduced in FHL2 patients with PRF1 missense mutations.
|
15632205 |
2005 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PRF1 gene have been identified in familial hemophagocytic lymphohistiocytosis type-2 (FHL-2) patients, and it has been reported as the commonest gene defect causing FHL.
|
24390453 |
2014 |
Lymphoma
|
0.620 |
GeneticVariation
|
group |
BEFREE |
Our findings substantiate and expand the spectrum of clinical presentations of perforin deficiency, linking PRF1 missense mutations to lymphoma susceptibility and highlighting clinical variability within families.
|
26184781 |
2015 |
Lymphoma
|
0.620 |
GeneticVariation
|
group |
BEFREE |
Mutations of its gene, PRF1, cause familial hemophagocytic lymphohistiocytosis but have also been associated with lymphomas and the autoimmune/lymphoproliferative syndrome.
|
18198357 |
2008 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the perforin 1 (PRF1) gene account for up to 58% of familial hemophagocytic lymphohistiocytosis syndromes.
|
29355678 |
2018 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Since PERFORIN (PRF1) mutations are present in FHLH, we analysed its role in a series of 12 nasal and 12 extranasal-NKTCLs.
|
24632576 |
2014 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Exome sequencing identified a biallelic perforin1 mutation (PRF1; p.R225W) previously associated with familial hemophagocytic lymphohistiocytosis (FHL).
|
23443029 |
2013 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Common genetic mutations associated with FHL are mutations in gene PRF1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4).
|
22796692 |
2012 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1.
|
25975970 |
2015 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we examined perforin function in every patient reported in the literature who lived to at least 10 years of age without developing FHL despite inheriting mutations in both of their perforin (PRF1) alleles.
|
19487666 |
2009 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
As both STX11 and UNC13D are involved in vesicle trafficking and membrane fusion, we conclude that, besides mutations in perforin 1, defects in the endocytotic or the exocytotic pathway may be a common mechanism in FHL.
|
15703195 |
2005 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Genetic mutations in the perforin gene (PRF1) give rise to approximately 30% cases of familial hemophagocytic lymphohistiocytosis.
|
16791263 |
2006 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the perforin gene (PRF1) are a common cause of the fatal immune dysregulation disorder, familial hemophagocytic lymphohistiocytosis (type 2 FHL, FHL2).
|
22186995 |
2012 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular genetic studies documented a compound heterozygosity for two mutations in the perforin (PRF1) gene as the background defect for a familial haemophagocytic lymphohistiocytosis (FHL).
|
12725560 |
2003 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
The aim of this paper was to describe a case of familial hemophagocytic lymphohistiocytosis (HLH) in a pediatric patient with a PRF1 homozygous mutation.
|
23073044 |
2014 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations of the perforin (PRF1) and MUNC13-4 genes distinguish 2 forms of familial hemophagocytic lymphohistiocytosis (FHL2 and FHL3, respectively), but the clinical and biologic correlates of these genotypes remain in question.
|
15632205 |
2005 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis.
|
16956828 |
2006 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
STX11 gene mutations were found in 14% of the PRF1 negative FHL families included in the present cohort.
|
16582076 |
2006 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
We carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D).
|
25312756 |
2015 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients.
|
18496551 |
2008 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
However, the frequency of this alteration in FHLH patients associated with PRF1 mutation is much higher than that observed in controls (26.2%, P = 0.0002), suggesting that the alteration is an important genetic susceptibility factor.
|
16611257 |
2006 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Forty patients were studied and familial hemophagocytic lymphohistiocytosis mutations were identified in nine; eight patients had UNC13D mutations (89%) and one had a mutation in PRF1.No patient had a STX11 mutation.
|
20015888 |
2010 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
In 1999, perforin gene (PRF1) mutation was identified as a cause of 20-30% of FHL (FHL2) cases.
|
15718147 |
2005 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
|
18710388 |
2008 |
Familial Hemophagocytic Lymphocytosis
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Munc13-4 mutations were found in 15 of 30 patients with FHL without PRF1 mutations.
|
16825436 |
2006 |