Associated Papers
Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.
Grossi A et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Yue J et al.
Arthritis & Rheumatology (hoboken, N.j.), 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
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 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 brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Melo A et al.
Advances in Rheumatology (london, England), 2023
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H 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
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
Deuitch NT 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
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Miano M et al.
Frontiers in Immunology, 2022
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.
Barzaghi F et al.
Frontiers in Immunology, 2022
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
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.
Zoccolillo M et al.
Blood Advances, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.
Vai S et al.
International Journal of Molecular Sciences, 2021
ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype.
Ferriani MPL et al.
Rheumatology (oxford, England), 2021
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure.
Dell'Orso G et al.
Frontiers in 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
Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.
Neishabury M et al.
Haematologica, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I et al.
Journal of Clinical Immunology, 2018