ArticleBMC medical genetics2007
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Guideline
- Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.Haematologica · 2015Trial
- Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.Blood · 2014Trial
- Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.The Journal of allergy and clinical immunology · 2024Review
- Characterizing the regulatory Fas (CD95) epitope critical for agonist antibody targeting and CAR-T bystander function in ovarian cancer.Cell death and differentiation · 2023Article
- Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.Molecular and cellular pediatrics · 2023Review
- Apoptotic cell death in disease-Current understanding of the NCCD 2023.Cell death and differentiation · 2023Review
- Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome.International journal of molecular sciences · 2022Article
- ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.Annals of hematology · 2022Review
- Role of metalloproteases in the CD95 signaling pathways.Frontiers in immunology · 2022Review
- The genetic landscape of the FAS pathway deficiencies.Biomedical journal · 2021Review
- Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?Case reports in immunology · 2019Article
- The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.Journal of clinical immunology · 2018Review
- Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.Frontiers in immunology · 2018Article
- Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.Haematologica · 2017Article
- A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.Pediatric research · 2015Article
- Identifying genetic determinants of autoimmunity and immune dysregulation.Current opinion in immunology · 2015Review
- Carbon monoxide inhibits T cell activation in target organs during systemic lupus erythematosus.Clinical and experimental immunology · 2015Article
- Characterization of calmodulin-Fas death domain interaction: an integrated experimental and computational study.Biochemistry · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundAutoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6), a cell surface receptor that regulates apoptosis and its signaling apparatus.
methodsFas ligand gene mutations from ALPS patients were identified through cDNA and genomic DNA sequencing. Molecular and biochemical assessment of these mutant Fas ligand proteins were carried out by expressing the mutant FasL cDNA in mammalian cells and analysis its effects on Fas-mediated programmed cell death.
resultsWe 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. This produced a dominant-interfering FasL protein that bound to the wild-type FasL protein and prevented it from effectively inducing apoptosis.
conclusionOur data explain how a naturally occurring heterozygous human FasL mutation can dominantly interfere with normal FasL apoptotic function and lead to an ALPS phenotype, designated Type Ib.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.