Associated Papers
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
Structural basis for the substrate specificity of Helix pomatia AMP deaminase and a chimeric ADGF adenosine deaminase.
Kaur G et al.
The Journal of Biological Chemistry, 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
A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.
Lulek 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
Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa.
Zarafshani M et al.
Clinical Case Reports, 2024
Deficiency of Adenosine Deaminase 2
Coşkun Ç et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 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
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
Unveiling Deficiency of Adenosine Deaminase 2: An Adult Patient With Recurrent Strokes, Vasculitic Ulcers, and Bowel Perforation.
Trentin F et al.
The Journal of Rheumatology, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.
Al-Shaikh R et al.
Clinical Case Reports, 2022
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 2022
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
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.
Carneiro DR et al.
Neuromuscular Disorders : Nmd, 2021
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B et al.
Rheumatology International, 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
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
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.
Insalaco A et al.
The Journal of Rheumatology, 2019
Autoinflammatory diseases: State of the art.
Georgin-Lavialle S et al.
Presse Medicale (paris, France : 1983), 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
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
Mutant ADA2 in vasculopathies.
Kastner DL et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
van Montfrans J et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Bras J et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Van Eyck L et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Segel R et al.
The New England Journal of Medicine, 2014