Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.
|
8929361 |
1996 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
None of the patients harbored typically ALPS-associated mutations of the Fas receptor mediated apoptotic pathway and Fas-mediated apoptosis was not affected.
|
30386345 |
2018 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.
|
16291365 |
2005 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune lymphoproliferative syndrome (ALPS) is a human disorder of T cell homeostasis caused by mutations that impair FAS-mediated apoptosis.
|
25174872 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both.
|
26323380 |
2016 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hyperactivity of STAT3, a known repressor of FAS, was associated with decreased FAS-mediated apoptosis, mimicking ALPS caused by FAS mutations.
|
28579554 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the Fas gene have been associated with autoimmune lymphoproliferative syndrome, and somatic Fas mutations have been found in multiple myeloma.
|
9787134 |
1998 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using T-cell blasts from healthy donors and also from patients with autoimmune lymphoproliferative syndromes (ALPSs) due to homozygous loss-of-function mutation of FasL (ALPS-Ic) or heterozygous mutation in the Fas/CD95 death domain (ALPS-Ia), it is shown that the induction of Bim expression during the process of human T-cell blast generation is strictly dependent on FasL/Fas-mediated signaling.
|
17062728 |
2007 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
He was diagnosed as having ALPS and found to have a novel Fas gene mutation (IVS4+1G>A).
|
12736807 |
2003 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a child who developed autoimmune lymphoproliferative syndrome (ALPS) secondary to a heterozygous dominant negative mutation in the death domain of the Fas receptor.
|
10802504 |
2000 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the autoimmune/lymphoproliferative syndrome (ALPS), inherited loss-of-function mutations of the Fas gene cause nonmalignant lymphoproliferation and autoimmunity.
|
10807785 |
2000 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe the molecular analysis of the CD95 death domain in a family with autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), T-cell lymphoma, and Hodgkin's disease.
|
10340403 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defective lymphocyte apoptosis caused by mutations of the Fas (CD95) gene has been linked in the pathogenesis of ALPS, as binding of Fas-ligand to Fas can trigger apoptosis.
|
10575548 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of clinical manifestations of ALPS is mirrored by MRL/lpr mice that carry a loss of function mutation in the Fas gene and have proven to be a valuable model in predicting the efficacy of several therapeutics that are front-line modalities for the treatment of ALPS.
|
26453583 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
|
10090885 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency.
|
10403307 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.
|
27846610 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A role for other modifying genes was suggested by the finding that the healthy father exhibited defective Fas function, without mutation of the FAS gene, and had transmitted to the patient an osteopontin (OPN) gene variant previously associated with ALPS.
|
24043286 |
2013 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome).
|
10515860 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data support testing for somatic FAS mutations in DNT cells from ALPS patients with no detectable germline mutation and a similar clinical and laboratory phenotype to that of ALPS type Ia.
|
20360470 |
2010 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases of ALPS are caused by germline or somatic FAS mutations.
|
26334989 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We describe the molecular analysis of the CD95 death domain in a family with autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), T-cell lymphoma, and Hodgkin's disease.
|
10340403 |
1999 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.
|
12215906 |
2002 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two novel mutations in the Fas receptor resulting in an ALPS phenotype.
|
12139945 |
2002 |