Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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