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
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
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
Deficiency of Adenosine Deaminase 2 Masquerading as Behçet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.
Almojali A et al.
Journal of 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
Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.
Kozu KT et al.
Advances in Rheumatology (london, England), 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
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE et al.
Journal of Clinical Immunology, 2023
Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint.
Colangelo A et al.
Reumatismo, 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
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
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
Deuitch NT et al.
The Journal of Allergy and Clinical Immunology, 2022
Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.
Al-Shaikh R et al.
Clinical Case Reports, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
Drago E et al.
Frontiers in Immunology, 2022
Diagnosis of deficiency of adenosine deaminase type 2 in adulthood.
Betrains A et al.
Scandinavian Journal of Rheumatology, 2021
Child Neurology: Recurrent Brainstem Strokes and Aphthous Ulcers in a Child With Mutations in the ADA2 Gene.
Mo A et al.
Neurology, 2021
Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.
Zhang B et al.
Clinical Rheumatology, 2021
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
Shiraki M et al.
Children (basel, Switzerland), 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental 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
Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.
Ganhão S et al.
Clinical Rheumatology, 2020
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sahin S et al.
Current Opinion in Rheumatology, 2020
Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
Chong-Neto HJ et al.
Journal of Clinical Immunology, 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
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
Trotta L et al.
The Journal of Allergy and Clinical Immunology, 2018
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.
Springer JM et al.
Frontiers in Immunology, 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
Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.
van Well GTJ et al.
Clinical and Experimental Rheumatology, 0