Pediatria pre prax 4/2024

Deficiency of adenosine deaminase type 2 (DADA2) – first experiences in Slovakia: case reports

Deficiency of adenosine deaminase type 2 (DADA2) is an autoinflammatory disease identified in 2014 as a monogenic cause of systemic vasculitis resembling polyarteritis nodosa, with fever, livedo racemosa, peripheral necrosis, and early-onset stroke. Over the past 10 years, the knowledge of the phenotypic spectrum of DADA2 has expanded considerably. With 378 cases published so far in the world literature, DADA2 is considered a rare disease, but known cases represent only a fraction of the estimated 35,000 affected individuals worldwide (estimated prevalence ~ 1:222 000). We present the first 3 Slovak patients with genetically and biochemically confirmed DADA2. They illustrate 3 very distinct phenotypes of this disease – inflammatory-vasculopathic, immunodeficient and haematological that overlap in some characteristics. Our experience confirms the need for interdisciplinary care and multimodal treatment of this disease. Given the very heterogeneous clinical picture, it is important to raise awareness of DADA2, as more undiagnosed patients can be expected in our population.

Keywords: deficiency of adenosine deaminase type 2 (DADA2), vasculopathy, immunodeficiency, pure red cell aplasia (PRCA)