Associated Papers
Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2026
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
Precision T cell correction platform for inborn errors of immunity.
Mamia K et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
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
Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.
VanDerGraaf M et al.
Cancer Medicine, 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
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
Getting to know adenosine deaminase 2 deficiency inside and out.
Ehlers L 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
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 2025
A rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.
Yang W et al.
Frontiers in 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
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
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 2024
Deficiency of Adenosine Deaminase 2
Coşkun Ç et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.
Cai Q et al.
American Journal of Medical Genetics. Part A, 2024
Adenosine deaminase 2 deficiency in a Chinese patient: Report of one novel mutation and literature review.
Yuxuan B et al.
Journal of Cosmetic Dermatology, 2024
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
Verschoof MA et al.
European Journal of Neurology, 2024
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency.
Yu H et al.
Frontiers in Genetics, 2024
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE et al.
Journal of Clinical Immunology, 2023
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report.
Oster C et al.
Journal of Clinical Immunology, 2023
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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
A Cohort Study on Deficiency of ADA2 from China.
Li GM et al.
Journal of Clinical Immunology, 2023
Deficiency of adenosine deaminase 2 (DADA2): Review.
Sharma V et al.
Best Practice & Research. Clinical Rheumatology, 2023
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Alabbas F et al.
Journal of Clinical Immunology, 2023
ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report.
Yin J et al.
Translational Pediatrics, 2023
Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
Hui Ong EL et al.
The American Journal of Dermatopathology, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
A Unique Case of Deficiency of Adenosine Deaminase 2 Single in a Young Adult Patient.
Alharthi A et al.
Cureus, 2023
Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa.
Hassanzadeh S et al.
Reumatologia, 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
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment.
Simão Raimundo D et al.
Frontiers in Pediatrics, 2023
Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.
Celikel E et al.
Northern Clinics of Istanbul, 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