Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2025
Diverse Phenotypic Expressions of ADA2 Deficiency: Two Case Studies.
Razaghian A et al.
Iranian Journal of Allergy, Asthma, and 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
ADA2 is a lysosomal deoxyadenosine deaminase acting on DNA involved in regulating TLR9-mediated immune sensing of DNA.
Greiner-Tollersrud OK et al.
Cell Reports, 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
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
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Akgun-Dogan O et al.
American Journal of Medical Genetics. Part A, 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
Monogenic polyarteritis: the lesson of ADA2 deficiency.
Caorsi R et al.
Pediatric Rheumatology Online Journal, 2016
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Belot A et al.
Pediatric Rheumatology Online Journal, 2014