Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment

I Meyts, I Aksentijevich - Journal of clinical immunology, 2018 - Springer
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 …

Enzymes involved in metabolism of extracellular nucleotides and nucleosides: functional implications and measurement of activities

GG Yegutkin - Critical reviews in biochemistry and molecular …, 2014 - Taylor & Francis
Extracellular nucleotides and nucleosides mediate diverse signaling effects in virtually all
organs and tissues. Most models of purinergic signaling depend on functional interactions …

[HTML][HTML] Early-onset stroke and vasculopathy associated with mutations in ADA2

Q Zhou, D Yang, AK Ombrello… - … England Journal of …, 2014 - Mass Medical Soc
Background We observed a syndrome of intermittent fevers, early-onset lacunar strokes and
other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic …

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy

P Navon Elkan, SB Pierce, R Segel… - … England Journal of …, 2014 - Mass Medical Soc
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 …

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

R Caorsi, F Penco, A Grossi, A Insalaco… - Annals of the …, 2017 - ard.bmj.com
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 …

Cryo-EM structure of the RADAR supramolecular anti-phage defense complex

B Duncan-Lowey, N Tal, AG Johnson, S Rawson… - Cell, 2023 - cell.com
RADAR is a two-protein bacterial defense system that was reported to defend against phage
by" editing" messenger RNA. Here, we determine cryo-EM structures of the RADAR defense …

Adenosine-metabolizing enzymes, adenosine kinase and adenosine deaminase, in cancer

G Zhulai, E Oleinik, M Shibaev, K Ignatev - Biomolecules, 2022 - mdpi.com
The immunosuppressive effect of adenosine in the microenvironment of a tumor is well
established. Presently, researchers are developing approaches in immune therapy that …

The concise guide to PHARMACOLOGY 2013/14: enzymes

SPH Alexander, HE Benson… - British Journal of …, 2013 - Wiley Online Library
Abstract The Concise Guide to PHARMACOLOGY 2013/14 provides concise overviews of
the key properties of over 2000 human drug targets with their pharmacology, plus links to an …

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages

AV Zavialov, E Gracia, N Glaichenhaus… - Journal of leukocyte …, 2010 - academic.oup.com
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 …

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

B Pinto, P Deo, S Sharma, A Syal, A Sharma - Clinical Rheumatology, 2021 - Springer
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic
mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …