{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T18:11:50Z","timestamp":1793211110254,"version":"4.5.0"},"reference-count":33,"publisher":"The Journal of Rheumatology","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with <jats:italic>ADA2<\/jats:italic> mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>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 <jats:italic>ADA2<\/jats:italic> exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>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 <jats:italic>ADA2<\/jats:italic> mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. <jats:italic>ADA2<\/jats:italic> mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>We suggest assessing ADA2 activity along with genetic analysis because there are patients with one <jats:italic>ADA2<\/jats:italic> mutation and absent enzyme activity. Our data suggest a possible genotype\u2013phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.181384","type":"journal-article","created":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T16:42:40Z","timestamp":1556728960000},"page":"117-125","source":"Crossref","is-referenced-by-count":91,"title":["A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2"],"prefix":"10.3899","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2883-7868","authenticated-orcid":false,"given":"Seza","family":"\u00d6zen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1065-2363","authenticated-orcid":false,"given":"Ezgi 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