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 |
Biomarker
|
disease |
BEFREE |
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.
|
29686686 |
2018 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Indeed, this peculiar genetic background favored the identification of a novel form of AR ALPS-FAS associated with normal or residual protein expression, expanding the spectrum of ALPS types.
|
29345341 |
2018 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.
|
29911256 |
2018 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The obtained data demonstrate that mutations to FAS and UNC13D which result in overwhelming T-cell and macrophage activation, one associated with inhibited Treg cell development and a severe ALPS-like symptom.
|
29864493 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
Lymphadenopathy driven by TCR-V<sub>γ</sub>8V<sub>δ</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.
|
29296752 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identification of a genetic defect in the FAS-mediated apoptosis pathway confirms that the lymphoproliferative disease in BSH cats fulfills the diagnostic criteria for ALPS in humans.
|
27770190 |
2017 |
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 |
Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized pediatric autoimmune disease caused by mutations in genes associated with the FAS-dependent apoptosis pathway.
|
27845235 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Very rare cases of homozygous germline FAS mutations causing severe autosomal recessive form of ALPS with a complete defect of Fas expression have been reported.
|
28668589 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic causes of ALPS such as somatic mutations of RAS or the recently described CTLA-4 insufficiency.
|
29073495 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
As only the son had the major clinical manifestations of ALPS-FAS, miR-21-3p should be investigated as playing a critical role in ALPS physiopathology, including the development of lymphoma.
|
27060458 |
2016 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data uncover a defect in B-cell selection in patients with FAS mutations, which has implications for the understanding of the pathogenesis of autoimmunity and lymphomagenesis of autoimmune lymphoproliferative syndrome.
|
26907631 |
2016 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome.
|
26258116 |
2015 |
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 |
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 |
BEFREE |
Most cases of ALPS are caused by germline or somatic FAS mutations.
|
26334989 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results support haploinsufficiency as the underlying mechanism involved in the pathogenesis of ALPS caused by extracellular FAS missense mutations.
|
26563159 |
2015 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
|
24398331 |
2014 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations.
|
22983577 |
2013 |
Autoimmune Lymphoproliferative Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
However, double-negative (DN) T cells of the ALPS patient had no FAS expression due to somatic loss of heterozygosity.
|
23524443 |
2013 |
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 |
The prototype for human apoptosis disorders is the autoimmune lymphoproliferative syndrome (ALPS), which is caused by mutations in the FAS apoptotic pathway.
|
23430113 |
2013 |