Deficiency of Adenosine Deaminase 2 — Research Summary
Printed from RareWays (rareways.com.au) on 24 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.
Peters Philipp et al. — Journal of human immunity (7 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42312136/
- 2.
Ethnic Genotype: Phenotype Correlation and Treatment of DADA2. A Single-center Cohort.
Kalish Or et al. — The Israel Medical Association journal : IMAJ (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42701838/
- 3.
Deficiency of Adenosine Deaminase 2 Presenting as Recurrent Stroke and Steroid-Responsive Hearing Loss in a Young Adult.
Chawla Tanushree et al. — Annals of Indian Academy of Neurology (28 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42671402/
- 4.
Pure Red Cell Aplasia as the Sentinel Presentation of Deficiency of Adenosine Deaminase 2
Raj Kumar Maurya et al. — Indian Journal of Hematology and Blood Transfusion (10 August 2026)
https://doi.org/10.1007/s12288-026-02538-w
- 5.
Immune Dysregulation and Lymphoma Risk in Deficiency of Adenosine Deaminase 2.
Akillioglu Merve et al. — International journal of rheumatic diseases (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42538319/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Deficiency of Adenosine Deaminase 2
Deficiency of adenosine deaminase 2 is a rare inherited condition caused by changes in the ADA2 gene. It can inflame blood vessels, leading to strokes, skin rashes, fevers and organ damage, and it may also affect the immune system and bone marrow, causing low blood counts. Treatment often uses TNF-blocking medicines, and bone marrow transplant is considered in some cases.
Most Recent Research
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease with diverse phenotypes. We describe the genetics, phenotypes, and treatment of n = 48 DADA2 patients from Germany, Austria, and Switzerland. We report a high incidence of hematological (83%) and immunological features (85%), a comparatively low anti-tumor necrosis factor full-response rate (58%), and a high decision probability (21%) for hematopoietic cell transplantation (HCT). We establish a correlation between genetic variant ADA2 activity and patient ADA2 activity. Remarkably, lower patient ADA2 activity is predictive of neutropenia and shows a trend toward HCT decision, whereas higher patient ADA2 activity is predictive of vasculitis symptoms. Genetic variants with low residual ADA2 activity are significantly more common among patients receiving HCT. Our study corroborates previous observations connecting ADA2 activity and clinical phenotype, which up to now have been mainly based on in vitro data.
Common Questions
What is Deficiency of Adenosine Deaminase 2?
Deficiency of adenosine deaminase 2 is a rare inherited condition caused by changes in the ADA2 gene. It can inflame blood vessels, leading to strokes, skin rashes, fevers and organ damage, and it may also affect the immune system and bone marrow, causing low blood counts. Treatment often uses TNF-blocking medicines, and bone marrow transplant is considered in some cases.
How many clinical trials are available for Deficiency of Adenosine Deaminase 2?
No clinical trials are currently indexed for Deficiency of Adenosine Deaminase 2. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Deficiency of Adenosine Deaminase 2 come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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