Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 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
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.
Pelagiadis I et al.
Children (basel, Switzerland), 2023
ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report.
Yin J et al.
Translational Pediatrics, 2023
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
Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.
Bowers SM 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
Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.
Sharma A et al.
Arthritis & Rheumatology (hoboken, N.j.), 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
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
Lee PY et al.
The Journal of Allergy and Clinical Immunology, 2020
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
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Hashem H et al.
Blood, 2017
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
Schepp J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
Monogenic polyarteritis: the lesson of ADA2 deficiency.
Caorsi R et al.
Pediatric Rheumatology Online Journal, 2016
Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.
Pichard DC et al.
Journal of the American Academy of Dermatology, 2016
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q et al.
The New England Journal of Medicine, 2014