ReviewCurrent rheumatology reports2020
The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.
Review in Current rheumatology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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.
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Who cites it
29 citing papers in PubMed, 47 citations in OpenAlex.
- Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders.Medicina (Kaunas, Lithuania) · 2026Review
- Adenosine deaminase 2 (ADA2) deficiency masquerading as polyarteritis nodosa.JAAD case reports · 2025Article
- Paracentral acute middle maculopathy as a major clinical manifestation of adenosine deaminase-2 deficiency.BMC ophthalmology · 2025Article
- Deficiency of Adenosine Deaminase 2Turkish journal of haematology : official journal of Turkish Society of Haematology · 2024Review
- ADA2 regulates inflammation and hematopoietic stem cell emergence via the ACommunications biology · 2024Article
- Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.Case reports in immunology · 2024Article
- Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.SAGE open medical case reports · 2024Article
- ATP breakdown in plasma of children limits the antimicrobial effectiveness of their neutrophils.Purinergic signalling · 2023Article
- A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.Journal of clinical immunology · 2023Review
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?Frontiers in immunology · 2023Article
- Article
- Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment.Frontiers in pediatrics · 2023Article
- Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis.Frontiers in pediatrics · 2023Review
- Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.Northern clinics of Istanbul · 2023Article
- Paediatric Behçet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.Journal of clinical medicine · 2022Review
- Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.Frontiers in immunology · 2022Article
- Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.Frontiers in immunology · 2022Article
- Genetic dissection of innate immune memory inFrontiers in immunology · 2022Article
- Pediatric uveitis: Role of the pediatrician.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewWe aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). RECENT
findingsDADA2 is a multi-organ disease of children and less often adults, which can present with wide-ranging manifestations including strokes, medium vessel vasculitis, hematologic disease, and immunodeficiency. Diagnosis is through detection of reduced activity level of the adenosine deaminase 2 (ADA2) enzyme and/or identification of bi-allelic mutations in the ADA2 gene. Outside of high-dose glucocorticoids, conventional immunosuppression has been largely ineffective in treating this relapsing and remitting disease. Vasculitic-predominant manifestations respond extremely well to tumor necrosis factor-α inhibition. Hematopoietic stem cell transplantation can lead to normalization of enzyme activity, as well as resolution of vasculitic, hematologic, and immunologic manifestations, although treatment-related adverse effects are not uncommon. Early detection of this disease across multiple disciplines could prevent devastating clinical outcomes, especially in genetically pre-disposed populations.
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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.