Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 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
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
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
A Cohort Study on Deficiency of ADA2 from China.
Li GM et al.
Journal of Clinical Immunology, 2023
Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea.
Cho S et al.
Journal of Rheumatic Diseases, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 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
[Corrigendum] Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.
Zervou MI et al.
Molecular Medicine Reports, 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
Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.
Zervou MI et al.
Molecular Medicine Reports, 2020
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sahin S et al.
Current Opinion in Rheumatology, 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