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DADA2 is characterized by a broad spectrum of clinical features, including inflammatory\/vasculitic, hematological, and immunodeficient manifestations. Related to this complex clinical phenotype, which overlaps with other diseases, underdiagnosis of DADA2 can be suspected. Several pathophysiological mechanisms causing DADA2 have been described in recent years; however, a unifying pathomechanism explaining all DADA2 disease manifestations is still lacking. Although DADA2 is considered an autosomal recessive disorder, recently several variants in the ADA2 gene were described to cause DADA2 disease in a heterozygous state, via negative dominance. Data from PheWAS studies in large public databases support this observation. Based on these findings, the prevalence of ADA2-associated phenotypes might be much higher than the estimated 1 in 222,146 individuals. As a result, patients with these phenotypes are likely to be encountered by multiple medical disciplines.<\/jats:p>","DOI":"10.70962\/jhi.20260015","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:21:35Z","timestamp":1783578095000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Adenosine deaminase type 2 deficiency: From rare to common"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4675-1665","authenticated-orcid":true,"given":"Marjon","family":"Wouters","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory for Inborn Errors of Immunity, Microbiology Immunology and Transplantation, KU Leuven 1 , Leuven,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5476-2257","authenticated-orcid":true,"given":"Verena","family":"Kienapfel","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory for Inborn Errors of Immunity, Microbiology Immunology and Transplantation, KU Leuven 1 , Leuven,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8737-001X","authenticated-orcid":true,"given":"Lisa","family":"Ehlers","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory for Inborn Errors of Immunity, Microbiology Immunology and Transplantation, KU Leuven 1 , Leuven,","place":["Belgium"]},{"name":"Immunology and Critical Care Medicine, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin 2 Department of Pediatric Respiratory Medicine, , Berlin,","place":["Germany"]},{"name":"Berlin Institute of Health at Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin 3 , Berlin,","place":["Germany"]},{"name":"German Center for Child and Adolescent Health (DZKJ), Partner Site Berlin 4 , Berlin,","place":["Germany"]},{"name":"Deutsches Rheuma-Forschungszentrum, An Institute of the Leibniz Association 5 , Berlin,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4681-4726","authenticated-orcid":true,"given":"Hasan","family":"Hashem","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0564xsr50","id-type":"ROR","asserted-by":"publisher"}],"name":"King Hussein Cancer Center (KHCC) 6 Department of Pediatrics, Division of Pediatric Hematology-Oncology, , Amman,","place":["Jordan"]},{"id":[{"id":"https:\/\/ror.org\/0564xsr50","id-type":"ROR","asserted-by":"publisher"}],"name":"Pediatric Bone Marrow Transplantation and Stem Cell Therapy Service, King Hussein Cancer Center (KHCC) 7 , Amman,","place":["Jordan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6564-7214","authenticated-orcid":true,"given":"Ivona","family":"Aksentijevich","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00baak391","id-type":"ROR","asserted-by":"publisher"}],"name":"National Human Genome Research Institute 8 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1214-0302","authenticated-orcid":true,"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory for Inborn Errors of Immunity, Microbiology Immunology and Transplantation, KU Leuven 1 , Leuven,","place":["Belgium"]},{"id":[{"id":"https:\/\/ror.org\/0424bsv16","id-type":"ROR","asserted-by":"publisher"}],"name":"Primary Immunodeficiencies, University Hospitals Leuven 9 Department of Pediatrics, , Leuven,","place":["Belgium"]},{"name":"Jeffrey Modell Foundation Clinical Research Network and Diagnosis Center, New York, NY, USA 10"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2026,8,3]]},"reference":[{"key":"2026080309044070700_bib1","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1056\/nejmoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"New Engl. 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