Article detail · 2020
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
Journal
The Journal of RheumatologyISSN 0315-162X
The ISSN points to another catalog journal; the name is from the YÖKSİS record.
- Year
- 2020
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue The Journal of Rheumatology
- Catalog match (ISSN) Journal of Rheumatology
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients. Methods. This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method. Results. Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). Fourteen PAN-like DADA2 patients did not have the typical thrombocytosis seen in classic PAN. Inflammatory attacks were evident only in Group 1 patients. Serum ADA2 activity was low in all patients with DADA2 except one, who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. In DADA2 patients with one ADA2 mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients. Conclusion. We suggest assessing ADA2 activity along with genetic analysis because there are patients with one ADA2 mutation and absent enzyme activity. Our data suggest a possible genotype–phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.
Topics
Citations
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102 citations
OpenAlex cited_by_count (cache / database)
16 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients 2021
- The same mutation in a family with adenosine deaminase 2 deficiency 2021
- The same mutation in a family with adenosine deaminase 2 deficiency 2019
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis 2025
- Cutaneous Findings in Inborn Errors of Immunity: An Immunologists Perspective 2023
- Cutaneous Findings in Inborn Errors of Immunity: An Immunologists Perspective 2023
- Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features 2022
- Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features 2020
- Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features 2020
- The Effect of E148Q Variant on Disease Severity in Familial Mediterranean Fever Patients with Compound Heterozygous Mutation 2023