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

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

The Journal of allergy and clinical immunology - 1 Jan 2022

Jee Hyuk, Huang Zhengping, Baxter Samantha, Huang Yuelong, Taylor Maria L, Henderson Lauren A, Rosenzweig Sofia, Sharma Aman, Chambers Eugene P, Hershfield Michael S, Zhou Qing, Dedeoglu Fatma, Aksentijevich Ivona, Nigrovic Peter A, O'Donnell-Luria Anne, Lee Pui Y

Abstract excerpt

BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by deleterious ADA2 variants. The frequency of these variants in the general population, and hence the expected disease prevalence, remain unknown. OBJECTIVE: We aimed to characterize the functional impact and carrier frequency of ADA2 variants. METHODS: We performed functional studies and in silico analysis on 163 ADA2...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to Algorithms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to HEK293 Cells

Share to Immune System Diseases

Share to Intercellular Signaling Peptides and Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 34004258
DOI: 10.1016/j.jaci.2021.04.034
PMCID: PMC8591146

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

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.PMID 34004258Read ↗

Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.Semantic proximity Read ↗

A Cohort Study on Deficiency of ADA2 from China.Semantic proximity Read ↗

A cohort study on deficiency of ADA2 from ChinaSemantic proximity Read ↗

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.Semantic proximity Read ↗

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

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

Dominant negative<i>ADA2</i>mutations cause ADA2 deficiency in heterozygous carriersSemantic proximity Read ↗

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 Masquerading as Behçet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.Semantic proximity Read ↗

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.Semantic proximity Read ↗

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

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