ReviewThe Journal of allergy and clinical immunology2025
Getting to know adenosine deaminase 2 deficiency inside and out.
Review in The Journal of allergy and clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Biomolecules · 2026Review
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function.The Journal of clinical investigation · 2026Article
- Genetically Predicted tClinical, cosmetic and investigational dermatology · 2026Article
- Exploring the role of adenosine deaminase in esophageal cancer and its potential for traditional Chinese medicine intervention.Frontiers in molecular biosciences · 2026Article
- Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.Journal of human immunity · 2025Article
- Key Genes Associated With Functional Specialization of Neonatal Peripheral Monocytes.Human mutation · 2025Article
- Targeting CD73 and correcting adenosinergic signaling in critically ill patients.Frontiers in pharmacology · 2025Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ten years after the description of the first cohorts of patients with adenosine deaminase (ADA2) deficiency (DADA2), the pathomechanisms underlying the disease on a cellular level remain poorly understood. With the establishment of the lysosomal localization of the ADA2 protein and its involvement in nucleic acid sensing, the pathophysiologic focus has shifted to the inside of the cell. At the same time, extracellular (serum) ADA2 enzyme activity continues to be the diagnostic reference standard in patients with suspected DADA2. The diverse clinical phenotype and weak genotype-phenotype correlations further complicate the identification of shared cellular mechanisms that cause inflammation, immunodeficiency, and bone marrow failure in the absence of functional ADA2. This review inspects the characteristics of the ADA2 protein and its proposed function. The latter is discussed in the context of possible mechanisms driving the clinical phenotype in patients lacking functional ADA2. We discuss established processes and introduce unexplored pathways in the pathogenesis of DADA2.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.