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

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

22 Jun 2023

Abstract excerpt

Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts with, specifically in immune cells. Here we show a comprehensive interactome of NBEAL2 in primary T cells, based on...

Read the complete abstract on PubMed

Topics

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

Share to Chronic Lymphocytic Leukemia Research
Share to Immunodeficiency and Autoimmune Disorders
Share to Platelet Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37349339
DOI: 10.1038/s41467-023-39295-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cellsPMID 37349339Read ↗

Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeSemantic proximity Read ↗

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Semantic proximity Read ↗

Nbeal2 interacts with Dock7, Sec16a, and Vac14.Semantic proximity Read ↗

The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.Semantic proximity Read ↗

NBEAL2 is required for neutrophil and NK cell function and pathogen defense.Semantic proximity Read ↗

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.Semantic proximity Read ↗

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.Semantic proximity Read ↗

The role of PLCγ2 in immunological disorders, cancer, and neurodegenerationSemantic proximity Read ↗

Butyrophilin 2A2 promotes T cell immunoregulation by enhancing CD45 phosphatase activity within the immune synapseSemantic proximity Read ↗

P2RY8 variants in lupus patients uncover a role for the receptor in immunological toleranceSemantic proximity Read ↗

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.Semantic proximity Read ↗

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeSemantic proximity Read ↗

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