Associated Papers
Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function.
Beliën J et al.
The Journal of Clinical Investigation, 2026
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
Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.
Nayak AR 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-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.
Kaplan Sarıkavak S et al.
Frontiers in Immunology, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Yan L et al.
Clinical Immunology (orlando, Fla.), 2024
Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.
Karimzade P et al.
Case Reports in Immunology, 2024
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE et al.
Journal of Clinical Immunology, 2023
A Cohort Study on Deficiency of ADA2 from China.
Li GM et al.
Journal of Clinical Immunology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH 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
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Diagnosis of deficiency of adenosine deaminase type 2 in adulthood.
Betrains A et al.
Scandinavian Journal of Rheumatology, 2021
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
Yap JY et al.
Journal of Clinical Immunology, 2021
Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.
Pinto B et al.
Clinical Rheumatology, 2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H et al.
Journal of Clinical Immunology, 2021
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.
Zoccolillo M et al.
Blood Advances, 2021
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D 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
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
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
Özen S et al.
The Journal of Rheumatology, 2020
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sahin S et al.
Current Opinion in Rheumatology, 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
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
Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.
Sahin S et al.
Rheumatology International, 2018
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Hashem H et al.
Blood, 2017
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.
Hashem H et al.
Current Rheumatology Reports, 2017
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
Caorsi R et al.
Annals of the Rheumatic Diseases, 2017
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Navon Elkan P et al.
The New England Journal of Medicine, 2014