Purines perform many important functions in the cell, being the formation of the monomeric
precursors of nucleic acids DNA and RNA the most relevant one. Purines which also …

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 …

Background We observed a syndrome of intermittent fevers, early-onset lacunar strokes and
other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic …

Background Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that
is poorly understood. We identified six families with multiple cases of systemic and …

Stimulation of almost all mammalian cell types leads to the release of cellular ATP and
autocrine feedback through a diverse array of purinergic receptors. Depending on the types …

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 …

Background The specialisation of mammalian cells in time and space requires genes
associated with specific pathways and functions to be co-ordinately expressed. Here we …

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 …

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 …