Abstract
Deficiency of adenosine deaminase 2 is a rare monogenic disease, inherited in an autosomal recessive manner and caused by a loss-of-function mutation in the ADA2 gene. The disease is manifested by systemic vasculitis, deficiency of bone marrow failure, and/or immunodeficiency. According to international classification of inborn errors of immunity, deficiency of adenosine deaminase 2 is considered to be an autoinflammatory syndrome. Most often, the disease debuts before the age of 18, however, debuts at an older age have been reported. Due to nonspecificity of the symptoms, the correct diagnosis can be quite late, and patients can end up consulting a number of specialists besides a pediatrician or an immunologist. A delay in diagnosis, in turn, delays the start of therapy of the underlying disease, which determines the prognosis of the disease, and affects patients’ quality of life. In this article, we present a literature review on deficiency of adenosine deaminase 2 and a clinical case with a prevailing clinical picture of vasculitis with nervous system damage, which demonstrates the importance of timely diagnosis and the relevance of knowledge of the disease by doctors of different specialties.