Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

The involvement of extracellular nucleotides and adenosine in an array of cell-specific
responses has long been known and appreciated, but the integrative view of purinergic …

Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early
onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation …

Extracellular nucleotides and nucleosides mediate diverse signaling effects in virtually all
organs and tissues. Most models of purinergic signaling depend on functional interactions …

The immunosuppressive effect of adenosine in the microenvironment of a tumor is well
established. Presently, researchers are developing approaches in immune therapy that …

Adenosine-to-inosine RNA editing has been proposed to be involved in a bacterial anti-
phage defense system called RADAR. RADAR contains an adenosine triphosphatase …

Reduction of adenosine deaminase 2 (ADA2) activity due to autosomal-recessive loss-of-
function mutations in the ADA2 gene (previously known as CECR1) results in a systemic …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

Discovery of the growth factor activity of ADA2. ADAs play a pivotal role in regulating the
level of adenosine, a signaling molecule controlling a variety of cellular responses by …

Defects in lysosomal function have been associated with numerous monogenic human
diseases typically classified as lysosomal storage diseases. However, there is increasing …