HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W).
|
27271812 |
2017 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report.
|
25845254 |
2017 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman.
|
26903364 |
2016 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
|
26684649 |
2015 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
|
25937001 |
2015 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
|
25233452 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
|
25297583 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
|
24916509 |
2014 |
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 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
|
23443029 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Familial haemophagocytic lymphohistiocytosis in twin infants.
|
23255033 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
Biomarker
|
disease |
MGD |
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.
|
23160464 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.
|
22437823 |
2012 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
|
21959744 |
2011 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.
|
21234777 |
2011 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
|
21881043 |
2011 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
|
21152410 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
|
19487666 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
|
20092789 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency.
|
18074390 |
2008 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
|
17873118 |
2008 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
|
17873118 |
2008 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
|
17266056 |
2007 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
|
16278825 |
2006 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
|
16374518 |
2006 |