Vnitr Lek 2024, 70(4):233-240

Deficiency of adenosine deaminase type 2 (DADA2): clinical picture, diagnosis and treatment

Barbora Balažiová¹, Gabriela Hrčková¹, Veronika Dobšinská², Tomáš Dallos¹

¹ Detská klinika Lekárskej fakulty Univerzity Komenského (LF UK) a Národného ústavu detských chorôb (NÚDCH), Bratislava

² Transplantačná jednotka kostnej drene Kliniky detskej hematológie a onkológie LF UK a NÚDCH, Bratislava

Deficiency of adenosine deaminase type 2 (DADA2) is a genetically determined multisystem autoinflammatory disease first described in 2014. It results from pathogenic variants in the ADA2 gene that lead to the reduction or complete loss of ADA2 enzyme activity. It presents with a highly variable phenotype as systemic or cerebral vasculitis, immunodeficiency and/or bone marrow failure, usually with early onset. More than 370 published cases of DADA2 can be found in international literature, however, statistical calculations estimate the prevalence to more than 35,000 individuals worldwide. The diversity of the phenotypic spectrum delays diagnosis and effective treatment of patients not infrequently until adulthood. By reviewing the clinical picture, diagnosis and therapy of DADA2, we aim to improve the awareness of this disease among professionals and thus shorten the patients' pathway to effective treatment, which is efficient and crucial in preventing some of the permanent sequelae of untreated disease.

Keywords: deficiency of adenosine deaminase type 2 (DADA2), phenotype-genotype diversity, TNF-α inhibition, hematopoietic stem cell transplantation.

Accepted: June 5, 2024; Published: June 20, 2024  Show citation