Vnitr Lek 2024, 70(4):246-254

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

Barbora Balažiová¹, Peter Čižnár¹, Miroslava Pozdechová², Dušana Genšor³, Viktória Halušková⁴, Ivana Hulínková¹, Peter Švec², Miloš Jeseňák³, Hana Grombiříková⁵, Tomáš Freiberger⁵, Eva Froňková⁶, Giorgia Bucciol⁷, Isabelle Meyts⁷, 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,

³ Klinika detí a dorastu a Klinika pneumológie a ftizeológie, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Oddelenie klinickej imunológie a alergológie, Univerzitná nemocnica Martin

⁴ Oddelenie detskej onkológie a hematológie Detskej fakultnej nemocnice Košice

⁵ Genetická laboratoř Centra kardiovaskulární a transplantační chirurgie, Brno, Ústav klinické imunologie a alergologie Lékařské fakulty Masarykovy univerzity, Brno

⁶ Klinika dětské hematologie a onkologie 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

⁷ Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgicko

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).

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