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

Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.

Frontiers in immunology - 1 Jan 2022

Bowers Sarah M, Sundqvist Martina, Dancey Paul, Cabral David A, Brown Kelly L

Abstract excerpt

Background: Adenosine deaminase 2 (ADA2) is a homodimeric, extracellular enzyme and putative growth factor that is produced by cells of the myeloid lineage and, catalytically, deaminates extracellular adenosine to inosine. Loss-of-(catalytic)-function variants in the ADA2 gene are associated with Deficiency of ADA2 (DADA2), an autosomal recessive disease associated with an unusually broad range of inflammatory...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine
Share to Adenosine Deaminase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asparagine

Share to Gene Expression

Share to Inosine

Share to Intercellular Signaling Peptides and Proteins

Share to Interferon Type I

Share to Mammals

Source

Open in PubMed Open full text

Identifiers

PMID: 36248868
DOI: 10.3389/fimmu.2022.995191
PMCID: PMC9562767

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

Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.PMID 36248868Read ↗

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.Semantic proximity Read ↗

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).Semantic proximity Read ↗

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.Semantic proximity Read ↗

Single-cell profiling of T lymphocytes in deficiency of adenosine deaminase 2.Semantic proximity Read ↗

Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2Semantic proximity Read ↗

ADA2 is a lysosomal DNase regulating the type-I interferon responseSemantic proximity Read ↗

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.Semantic proximity Read ↗

DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Semantic proximity Read ↗

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2Semantic proximity Read ↗

Deficiency of adenosine deaminase 2 (DADA2): Review.Semantic proximity Read ↗

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Semantic proximity Read ↗

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