ReviewOrphanet journal of rare diseases2018
Adenosine deaminase deficiency: a review.
Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
97 citing papers in PubMed, 187 citations in OpenAlex.
- Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.Blood · 2022Trial
- A Phase 1 Study to Evaluate the Drug Interaction Between Islatravir (MK-8591) and Doravirine in Adults Without HIV.Clinical drug investigation · 2021Trial
- Clemastine alleviates cognitive dysfunction after SAH by targeting neuronal CNTN1 to regulate the ADA-adenosine pathway.Acta pharmacologica Sinica · 2026Article
- The Genetic Basis of Elongated Tails in Birds: Evidence for Sexual Selection as a Driver of Convergent Evolution.Integrative zoology · 2026Article
- Dynamic control of nucleotide metabolism in physiology and disease.Nature cell biology · 2026Review
- Review
- Metabolomic profiling delineates the role of adenosine in oocyte quality and embryonic development.Cell death & disease · 2026Article
- Cellular pharmacology of fludarabine: molecular determinants of transport and metabolism.Frontiers in pharmacology · 2026Review
- Top-Down Coercive Mechanisms and the Major Transitions in Evolution.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine.Journal of Crohn's & colitis · 2025Article
- The Effects of Storage Conditions and Homogenisation Buffers on the Measurement of SOD, CAT and ADA Enzyme Activities in Cattle Liver.Veterinary medicine and science · 2025Article
- PRPS activity tunes redox homeostasis in Myc-driven lymphoma.Redox biology · 2025Article
- Inhibition of ENT1 relieves intracellular adenosine-mediated T cell suppression in cancer.Nature immunology · 2025Article
- Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.Journal of clinical immunology · 2025Observational
- Multifaceted role of inosine in complex diseases and human health.Nutrition reviews · 2025Review
- Nanomaterials-mediated adenosine pathway inhibition for strengthening cancer immunotherapy.Theranostics · 2025Review
- Engineered Cardiac Tissues as a Platform for CRISPR-Based Mitogen Discovery.Advanced healthcare materials · 2025Article
- Metabolomic profiling and 16 S rRNA metabarcoding of endophytes of two Aloe species revealed diverse metabolites.AMB Express · 2024Article
- Extracellular Purine Metabolism-Potential Target in Multiple Sclerosis.Molecular neurobiology · 2024Review
37 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usually with persistent infection, or with pulmonary insufficiency. Three treatment options are currently available. Initial treatment with enzyme replacement therapy may alleviate acute symptoms and enable partial immunological reconstitution, but treatment is life-long, immune reconstitution is incomplete, and the reconstituted immune system may nullify the effects of the enzyme replacement. Hematopoietic stem cell transplant has long been established as the treatment of choice, particularly where a matched sibling or well matched unrelated donor is available. More recently, the use of gene addition techniques to correct the genetic defect in autologous haematopoietic stem cells treatment has demonstrated immunological and clinical efficacy. This article reviews the biology, clinical presentation, diagnosis and treatment of ADA-deficiency.
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What OpenQuestion holds
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.