ArticleJournal of clinical immunology2023
A Cohort Study on Deficiency of ADA2 from China.
Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- Paracentral acute middle maculopathy as a major clinical manifestation of adenosine deaminase-2 deficiency.BMC ophthalmology · 2025Article
- Deficiency of adenosine deaminase 2 (DADA2) presented with bilateral renal subcapsular hematoma: a case report and literature review.Annals of medicine and surgery (2012) · 2024Article
- Central retinal artery occlusion in a child with ADA2 deficiency: a case report.Annals of medicine and surgery (2012) · 2024Article
- Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.Frontiers in immunology · 2023Article
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43 authors.
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Abstract
purposeDeficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. We aim to further characterize DADA2 cases in China.
methodsA retrospective analysis of patients with DADA2 identified through whole exome sequencing (WES) at seventeen rheumatology centers across China was conducted. Clinical characteristics, laboratory findings, genotype, and treatment response were analyzed.
resultsThirty patients with DADA2 were enrolled between January 2015 and December 2021. Adenosine deaminase 2 enzymatic activity was low in all tested cases to confirm pathogenicity. Median age of disease presentation was 4.3 years and the median age at diagnosis was 7.8 years. All but one patient presented during childhood and two subjects died from complications of their disease. The patients most commonly presented with systemic inflammation (92.9%), vasculitis (86.7%), and hypogammaglobinemia (73.3%) while one patient presented with bone marrow failure (BMF) with variable cytopenia. Twenty-three (76.7%) patients were treated with TNF inhibitors (TNFi), while two (6.7%) underwent hematopoietic stem cell transplantation (HSCT). They all achieved clinical remission. A total of thirty-nine ADA2 causative variants were identified, six of which were novel.
conclusionTo establish early diagnosis and improve clinical outcomes, genetic screening and/or testing of ADA2 enzymatic activity should be performed in patients with suspected clinical features. TNFi is considered as first line treatment for those with vascular phenotypes. HSCT may be beneficial for those with hematological disease or in those who are refractory to TNFi.
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