ArticleImmunogenetics2019
A Chinese DADA2 patient: report of two novel mutations and successful HSCT.
Article in Immunogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 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
- Central retinal artery occlusion in a child with ADA2 deficiency: a case report.Annals of medicine and surgery (2012) · 2024Article
- Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.Case reports in immunology · 2024Article
- A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.Immunity, inflammation and disease · 2023Article
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygousTranslational pediatrics · 2023Article
- Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.Frontiers in immunology · 2023Article
- Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.Frontiers in immunology · 2022Review
- Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.Frontiers in immunology · 2022Review
- Increased expression of the TLR7/9 signaling pathways in chronic active EBV infection.Frontiers in pediatrics · 2022Article
- Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Clinical rheumatology · 2021Review
- Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.Journal of clinical immunology · 2021Article
- Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.Clinical rheumatology · 2021Review
- Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.Pediatric rheumatology online journal · 2021Article
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.Frontiers in immunology · 2021Article
- The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.Current rheumatology reports · 2020Review
- Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation.Genes & diseases · 2020Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by autosomal recessive mutations in Cat Eye Syndrome Chromosome Region 1 (CECR1) gene. In this report, we aimed to describe the clinical manifestations, immunological features, genotype, and treatments of one Chinese patient with novel CECR1 gene mutations. This patient initially presented with recurrent fever and rashes from the age of 3 months, but no pathogen was found. She then developed dry gangrene of the fingers at 5 months of age. Laboratory examinations revealed elevated levels of C-reactive protein and thrombocytes. The expression of interleukin-6 (IL-6) and IL-8 were both elevated. Sequencing results revealed that she had compound heterozygous mutations in CECR1 gene (c.1211T>C, p.Phe404Ser and c.1114 G>A, p.Val372Met). Subsequently, treatment with anti-IL-6 (tocilizumab) was started. However, she developed blurred vision in the right eye with occlusion of the central retinal artery, accompanied by unsteady gait. Magnetic resonance imaging (MRI) showed infarction of the right thalamus. Finally, she underwent hematopoietic stem cell transplantation (HSCT) and is currently in remission. Our findings suggest that HSCT could cure this disease.
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