Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2025
DADA2 as an autosomal dominant disease.
Webster H
Nature Reviews. Rheumatology, 2025
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Yue J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.
Ehlers L et al.
The Journal of Allergy and Clinical Immunology, 2025
A Novel Mutation in the Adenosine Deaminase-2 Gene Presenting as Severe Chronic Neutropenia With Myeloid Hypoplasia.
Borah P et al.
Pediatric Blood & Cancer, 2025
Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.
Schultheiß C et al.
The Journal of Allergy and Clinical Immunology, 2025
Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
Bulté D et al.
The Journal of Allergy and Clinical Immunology, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
ADA2 is a lysosomal deoxyadenosine deaminase acting on DNA involved in regulating TLR9-mediated immune sensing of DNA.
Greiner-Tollersrud OK et al.
Cell Reports, 2024
Deficiency of Adenosine Deaminase 2
Coşkun Ç et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L et al.
The Journal of Allergy and Clinical Immunology, 2023
Internuclear Ophthalmoplegia in a Child With Deficiency of Adenosine Deaminase 2.
Mandviwala MM et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023
Deficiency of adenosine deaminase 2 (DADA2): Review.
Sharma V et al.
Best Practice & Research. Clinical Rheumatology, 2023
A Unique Case of Deficiency of Adenosine Deaminase 2 Single in a Young Adult Patient.
Alharthi A et al.
Cureus, 2023
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Pulvirenti F et al.
Frontiers in Immunology, 2023
A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report.
Lucane Z et al.
Pediatric Rheumatology Online Journal, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
Jee H et al.
The Journal of Allergy and Clinical Immunology, 2022
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 2022
Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.
Bowers SM et al.
Frontiers in Immunology, 2022
DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
Fayand A et al.
Seminars in Arthritis and Rheumatism, 2021
Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.
Zhang B et al.
Clinical Rheumatology, 2021
Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.
Pinto B et al.
Clinical Rheumatology, 2021
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.
Watanabe N et al.
Journal of Leukocyte Biology, 2021
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
Schnappauf O et al.
Arthritis & Rheumatology (hoboken, N.j.), 2021
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B et al.
Rheumatology International, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Barron KS et al.
Frontiers in Immunology, 2021
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.
Kendall JL et al.
Current Rheumatology Reports, 2020
Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.
Zervou MI et al.
Molecular Medicine Reports, 2020
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
Göschl L et al.
Journal of Clinical Immunology, 2020
Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.
Gibson KM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2019
A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis Be Different?
Alaygut D et al.
Archives of Rheumatology, 2019
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
Moens L et al.
Immunological Reviews, 2019
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M et al.
European Journal of Human Genetics : Ejhg, 2018
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I et al.
Journal of Clinical Immunology, 2018
Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.
Günthner R et al.
Gene, 2018
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
Schepp J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.
Pichard DC et al.
Journal of the American Academy of Dermatology, 2016
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q et al.
The New England Journal of Medicine, 2014