ArticleJournal of investigative medicine high impact case reports
Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.
Article in Journal of investigative medicine high impact case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.The Journal of allergy and clinical immunology · 2025Article
- Mimics and challenging presentations of DADA2.Clinical and experimental immunology · 2025Review
- Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.Frontiers in immunology · 2025Article
- Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.SAGE open medical case reports · 2024Article
- Retrospective identification of the first cord blood-transplanted severe aplastic anemia in aFrontiers in immunology · 2024Review
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders.Frontiers in immunology · 2022Review
- Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.Frontiers in immunology · 2022Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with variable hematologic abnormalities. We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. (Ala247Glnfs*16) homozygous variant. The second case is a 10-year-old boy, known to have Hodgkin lymphoma and was under follow-up for 6 years; he presented with persistent neutropenia and was discovered to be homozygous for ADA2 c.1447_1451del, p. (Ser483Profs*5). In conclusion, we report two different novels ADA2 variants in two children; the first presented with PRCA and the second presented with persistent neutropenia. This report aims to raise the concerns regarding the use of genetic testing in different hematologic diseases with indefinite etiology, as it will lead to the best therapeutic strategies without the need for unnecessary interventions.
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