Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2025
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Yue J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.
Nayak AR 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
Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series
Aksu MD et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
Xu X et al.
Journal of Clinical Immunology, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.
Cai Q et al.
American Journal of Medical Genetics. Part A, 2024
Novel ADA2 Variants in a Romanian Case Series of DADA2.
Cochino AV et al.
Journal of Clinical Immunology, 2023
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
Early onset is an indication of the severity of DADA2 disease.
Zhao X et al.
Rheumatology (oxford, England), 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
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
Jee H 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
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H et al.
Journal of Clinical Immunology, 2021
Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.
Wang W et al.
Pediatric Rheumatology Online Journal, 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
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
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 Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
Özen S et al.
The Journal of Rheumatology, 2020
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sahin S et al.
Current Opinion in Rheumatology, 2020
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
Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2.
Hashem H et al.
Bone Marrow Transplantation, 2017
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.
Hashem H et al.
Current Rheumatology Reports, 2017
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.
Hashem H et al.
Journal of Pediatric Hematology/oncology, 2017
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM et al.
Plos Genetics, 2016