Associated Papers
Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study.
Ferraro C et al.
Genes, 2026
Adenosine deaminase 2 (ADA2) deficiency masquerading as polyarteritis nodosa.
Reynolds C et al.
Jaad Case Reports, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2025
DADA2 as an autosomal dominant disease.
Webster H
Nature Reviews. Rheumatology, 2025
Diverse Phenotypic Expressions of ADA2 Deficiency: Two Case Studies.
Razaghian A et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2025
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Yue J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.
Ehlers L et al.
The Journal of Allergy and Clinical Immunology, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A Novel Mutation in the Adenosine Deaminase-2 Gene Presenting as Severe Chronic Neutropenia With Myeloid Hypoplasia.
Borah P et al.
Pediatric Blood & Cancer, 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
Deficiency of Adenosine Deaminase 2 Masquerading as Behçet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.
Almojali A et al.
Journal of Clinical Immunology, 2025
A Clinical Case Report of Deficiency of Adenosine Deaminase 2 Syndrome (DADA 2) Presenting as a Brachial Artery Aneurysm.
Sowdagar S et al.
Mediterranean Journal of Rheumatology, 2025
Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.
Abe-Ridgway K et al.
Ophthalmic Genetics, 2025
A rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.
Yang W et al.
Frontiers in Immunology, 2025
Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report.
Nakao R et al.
The Journal of Medical Investigation : Jmi, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 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
Deficiency of Adenosine Deaminase 2
Coşkun Ç et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024
A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways.
Kabeerdoss J et al.
Clinical Rheumatology, 2024
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency.
Yu H et al.
Frontiers in Genetics, 2024
A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.
Parlar K et al.
Modern Rheumatology Case Reports, 2023
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
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report.
Agajany N et al.
Neurology. Genetics, 2023
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 new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.
Nicoară D et al.
Immunity, Inflammation and Disease, 2023
A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.
Asna Ashari K et al.
Pediatric Rheumatology Online Journal, 2023
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Melo A et al.
Advances in Rheumatology (london, England), 2023
A Cohort Study on Deficiency of ADA2 from China.
Li GM et al.
Journal of Clinical Immunology, 2023
Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.
Giossi A et al.
European Journal of Neurology, 2023
Deficiency of adenosine deaminase 2 (DADA2): Review.
Sharma V et al.
Best Practice & Research. Clinical Rheumatology, 2023
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Alabbas F et al.
Journal of Clinical Immunology, 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
Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
Hui Ong EL et al.
The American Journal of Dermatopathology, 2023
A Unique Case of Deficiency of Adenosine Deaminase 2 Single in a Young Adult Patient.
Alharthi A et al.
Cureus, 2023
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa.
Hassanzadeh S et al.
Reumatologia, 2023
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Pulvirenti F et al.
Frontiers in Immunology, 2023
Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.
Sanchez DA et al.
Frontiers in Immunology, 2023