ArticleJournal of clinical immunology2016
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Anifrolumab, a potential treatment for ADA2 deficiency.RMD open · 2026Article
- Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Detection of Anti-IFNγ Autoantibodies From Dried Blood Spots.Open forum infectious diseases · 2025Article
- Genetic and epigenetic factors shape phenotypes and outcomes in systemic lupus erythematosus - focus on juvenile-onset systemic lupus erythematosus.Current opinion in rheumatology · 2025Review
- Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.Frontiers in immunology · 2025Article
- Towards precision medicine for systemic lupus erythematosus and neuropsychiatric manifestations.Expert review of precision medicine and drug development · 2025Article
- Human ADA2 Deficiency: Ten Years Later.Current allergy and asthma reports · 2024Review
- A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.Pediatric rheumatology online journal · 2023Article
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.Frontiers in immunology · 2022Review
- Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.Frontiers in immunology · 2022Review
- Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.Journal of clinical immunology · 2021Article
- Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Clinical rheumatology · 2021Review
- Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.Blood advances · 2021Article
- The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.Frontiers in immunology · 2021Observational
- Plasma Adenosine Deaminase (ADA)-1 and -2 Demonstrate Robust Ontogeny Across the First Four Months of Human Life.Frontiers in immunology · 2021Article
- The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.Current rheumatology reports · 2020Review
- Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDetermining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child.
methodsWhole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing. Dried plasma spots of the male patient and his mother were analyzed for ADA2 enzymatic activity.
resultsFollowing data analysis of WES, we found a compound heterozygous mutation in CECR1 (encoding adenosine deaminase 2, ADA2) that segregated in the two affected children. Enzyme activity measurement confirmed a severely diminished ADA2 activity in our patient. The 32 year old index patient was suffering from recurrent respiratory infections and was previously diagnosed with common variable immunodeficiency (CVID), showing no signs of vasculitis. His sister had a systemic lupus erythematosus (SLE)-like phenotype and died at age 17.
conclusionsDeficiency of ADA2 (DADA2) has been reported to cause vasculopathy and early-onset stroke. Our case suggests that it should also be considered when evaluating patients with antibody deficiencies and immune dysregulation syndromes.
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