ArticleAJNR. American journal of neuroradiology2021
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
Article in AJNR. American journal of neuroradiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature Review.Cureus · 2026Article
- Neuroimaging in inborn errors of immunity: More than infections.Neuroradiology · 2026Review
- 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
- Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.Neurology. Genetics · 2025Review
- Arterial and venous thrombosis in systemic and monogenic vasculitis.Nature reviews. Rheumatology · 2025Review
- A Clinical Case Report of Deficiency of Adenosine Deaminase 2 Syndrome (DADA 2) Presenting as a Brachial Artery Aneurysm.Mediterranean journal of rheumatology · 2025Article
- In-depth analysis of the RNA editing landscape in intracranial aneurysms and its potential role in alternative splicing.Computational and structural biotechnology journal · 2025Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.European journal of neurology · 2024Article
- Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report.Neurology. Genetics · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2).Seminars in immunopathology · 2022Review
- Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?Histology and histopathology · 2022Review
- The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.Frontiers in immunology · 2021Observational
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15 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.
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