Associated Papers
Gene therapy supports long-term reconstitution of patient hematopoietic stem cells in deficiency of adenosine deaminase 2.
Rigamonti C et al.
Molecular Therapy. Methods & Clinical Development, 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
Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.
Ehlers L et al.
The Journal of Allergy and Clinical Immunology, 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
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
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
Deficiency of Adenosine Deaminase 2
Coşkun Ç et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024
Deficiency of adenosine deaminase 2 (DADA2) presenting with diffuse skeletal muscle vasculitis.
Monda S et al.
Journal of Paediatrics and Child Health, 2024
Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.
Priyanka P et al.
Rheumatology (oxford, England), 2024
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency.
Yu H et al.
Frontiers in Genetics, 2024
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
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Melo A et al.
Advances in Rheumatology (london, England), 2023
A Cohort Study on Deficiency of ADA2 from China.
Li GM et al.
Journal of Clinical Immunology, 2023
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.
Soldatos A et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 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
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment.
Simão Raimundo D et al.
Frontiers in Pediatrics, 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
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical Immunology, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.
Zinterl C et al.
Journal of Multidisciplinary Healthcare, 2022
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 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
The Growing Spectrum of DADA2 Manifestations-Diagnostic and Therapeutic Challenges Revisited.
Escherich C et al.
Frontiers in Pediatrics, 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
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 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
Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.
Zhang 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
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
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Schnappauf O et al.
Journal of Clinical Immunology, 2020
Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.
Kisla Ekinci RM et al.
Rheumatology (oxford, England), 2020