Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma.
|
27848183 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
BEFREE |
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).
|
27060458 |
2016 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
BEFREE |
Moreover, in another family, we present the first case of lymphoma in a patient with ALPS-FASLG.
|
26334989 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.
|
26334989 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Mutations of Fas or, less frequently, Fas ligand genes result in a rare inherited lymphoid disorder called autoimmune lymphoproliferative syndrome (ALPS) in which lymphoma frequency is increased.
|
20162683 |
2010 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in FASL and FAS impair Fas-dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphoproliferative syndrome (ALPS).
|
21109225 |
2010 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
However, other mutations, namely of the FasL gene (ALPS-Ib) and the caspase-10 gene (ALPS-II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III).
|
17999750 |
2007 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region.
|
17605793 |
2007 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GermlineCausalMutation
|
disease |
ORPHANET |
We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region.
|
17605793 |
2007 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.
|
16627752 |
2006 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
BEFREE |
These findings provide evidence that inherited nonlethal FASL abnormalities cause an uncommon apoptosis defect producing lymphoproliferative disease, and they highlight the need for a review of the current ALPS classification to include a new ALPS type Ic subgroup.
|
16627752 |
2006 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Mutations of Fas or Fas ligand genes result in the autoimmune lymphoproliferative syndrome (ALPS) in humans.
|
11380411 |
2001 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
AlteredExpression
|
disease |
BEFREE |
Similar up-regulation of Fas ligand gene expression has been observed in mice with autoimmune lymphoproliferative syndromes caused by Fas mutations.
|
9136951 |
1997 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.
|
8787672 |
1996 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
MGD |
gld/gld mice are unable to express a functional ligand for Fas.
|
7512035 |
1994 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
MGD |
Phenotypic, functional, and molecular genetic comparisons of the abnormal lymphoid cells of C3H-lpr/lpr and C3H-gld/gld mice.
|
3009614 |
1986 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
MGD |
Immunologic abnormalities of mice bearing the gld mutation suggest a common pathway for murine nonmalignant lymphoproliferative disorders with autoimmunity.
|
3856256 |
1985 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
MGD |
A new mutation, gld, that produces lymphoproliferation and autoimmunity in C3H/HeJ mice.
|
6693832 |
1984 |
Autoimmune Lymphoproliferative Syndrome
|
0.890 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hepatitis
|
0.400 |
Biomarker
|
group |
CTD_human |
Fulminant liver failure after vancomycin in a sulfasalazine-induced DRESS syndrome: fatal recurrence after liver transplantation.
|
19706026 |
2009 |
Hepatitis
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Melanoma liver metastases were induced in wild-type C57BL/6 mice and the gld/gld mutant C57BL/6 mouse strain that expresses a defective form of FasL (CD95L) that fails to engage and signal via the Fas receptor (CD95).
|
30932943 |
2019 |
melanoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
Reconstitution of RIPK3, but not a RIPK3-kinase dead mutant in a set of melanoma cell lines overcame CD95L/IAP antagonist-induced necroptosis resistance independent of autocrine tumour necrosis factor secretion.
|
26355347 |
2015 |
melanoma
|
0.380 |
AlteredExpression
|
disease |
BEFREE |
For efficient and selective targeting of melanoma, a conditional replication-competent adenoviral vector was constructed (Ad5-FFE-02), which drives CD95L expression by a tetracycline-inducible promoter.
|
19725869 |
2010 |
melanoma
|
0.380 |
Therapeutic
|
disease |
CTD_human |
Dual treatment with COX-2 inhibitor and sodium arsenite leads to induction of surface Fas Ligand expression and Fas-Ligand-mediated apoptosis in human melanoma cells.
|
16487513 |
2006 |