Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The genetic landscape of the FAS pathway deficiencies.

Biomedical journal - 1 Aug 2021

Magerus Aude, Bercher-Brayer Clara, Rieux-Laucat Frédéric

Abstract excerpt

Dysfunction of the FAS-FASLG pathway causes a lymphoproliferative disorder with autoimmunity called Autoimmune lymphoproliferative syndrome (ALPS) mainly caused by FAS mutations. The goal of this review is to describe the genetic bases of the autoimmune lymphoproliferative syndrome and to underline their genetic complexity with the contribution of both germline and somatic events accounting for the variable...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apoptosis
Share to Autoimmune Lymphoproliferative Syndrome
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to fas Receptor

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 34171534
DOI: 10.1016/j.bj.2021.06.005
PMCID: PMC8514852

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic landscape of the FAS pathway deficiencies.PMID 34171534Read ↗

Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patientsSemantic proximity Read ↗

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.Semantic proximity Read ↗

Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene.Semantic proximity Read ↗

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.Semantic proximity Read ↗

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).Semantic proximity Read ↗

Advances in autoimmune lymphoproliferative syndromes.Semantic proximity Read ↗

Autoimmune Lymphoproliferative Syndrome (Alps) Disease and Alps Phenotype: Are They Two Distinct Entities?Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathwaysSemantic proximity Read ↗

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.