ArticleRMD open2016
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.
Article in RMD open, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Vasculitic fasciitis characterizes a distinct subset of vasculitic myopathy with interferon-gamma signature.Acta neuropathologica · 2025Article
- Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.The Journal of clinical investigation · 2024Article
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.Clinical case reports · 2022Article
- Identification of hub biomarkers and immune cell infiltration characteristics of polymyositis by bioinformatics analysis.Frontiers in immunology · 2022Article
- The Growing Spectrum of DADA2 Manifestations-Diagnostic and Therapeutic Challenges Revisited.Frontiers in pediatrics · 2022Article
- Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.Frontiers in immunology · 2022Review
- Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.Journal of clinical immunology · 2021Article
- Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.Clinical rheumatology · 2021Review
- Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Clinical rheumatology · 2021Review
- The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.Current rheumatology reports · 2020Review
- Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart.Clinical immunology (Orlando, Fla.) · 2020Review
- Current and future advances in genetic testing in systemic autoinflammatory diseases.Rheumatology (Oxford, England) · 2019Review
- Infliximab for the treatment of refractory polyarteritis nodosa.Clinical rheumatology · 2019Review
- Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.Frontiers in immunology · 2019Review
- Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.Cold Spring Harbor molecular case studies · 2018Article
- Warts and DADA2: a Mere Coincidence?Journal of clinical immunology · 2018Article
- Article
- Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.Journal of clinical immunology · 2018Review
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 2 countries.
Funding
Abstract
The objective of this paper is to: describe the phenotype compound heterozygote for mutations in CECR1 in two children. We describe the clinical and immunological phenotype, including the assessment of ADA2 activity, cytokine expression, interferon-stimulated and neutrophil-stimulated gene signatures, and the results of CECR1 sequencing. The first patient presented with intermittent fever, cutaneous vasculitis, myalgia and muscle inflammation on MRI leading to a provisional diagnosis of periarteritis nodosa. Subsequently, two cerebral lacunar lesions were identified following a brain stroke. Clinical features improved on anti-tumour necrosis factor therapy. The first patient's sister demonstrated early-onset, long-lasting anaemia with mild biological inflammation; at the ages of 3 and 5 years, she had presented 2 acute, transient neurological events with lacunar lesions on MRI. CECR1 sequencing identified both sisters to be compound heterozygous for a p.Tyr453Cys mutation and a previously undescribed deletion of exon 7. ADA2 activity was reduced by 50%. Neutrophil-stimulated genes were not overexpressed, but interferon-stimulated genes were. The expression of a panel of other cytokine transcripts was not significantly altered. In conclusion, searching for CECR1 mutation or assessing ADA2 activity should be considered in patients with an atypical presentation of inflammatory disease.
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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.