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the involvement of CECR1s via the adenosine/P1 receptors in vertebrate embryogenesis via regulation of extracellular adenosine concentrations.
Case Report: describe phenotype of patient with ADA2 deficiency.
We imposed no clinical selection or criteria before testing but collected uniform clinical data for each patient. Therefore, this series exactly reflects the context of requests for sequencing the ADA2 gene we receive in our laboratory
Adenosine deaminase type 2 deficiency with a homozygous premature stop codon masquerading as GATA2 deficiency: successful haploidentical sibling hematopoietic stem cell transplantation.
Deficiency of ADA2 causes IgA-IgG antibody deficiencies in a family.
High CECR1 activity is associated with brain tumor.
Data show that 2 patients required a second transplant for engraftment failure were discovered to carry the deleterious ADA2 adenosine deaminase (CECR1) mutations and be ADA2 deficient.
CECR1 function in (M2-like) macrophages mediates cross talk between macrophages and pericytes in GBM via paracrine PDGFB-PDGFRbeta signaling, promoting pericyte recruitment and migration, and tumor angiogenesis.
We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever
Findings indicate that ADA2 deficiency presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for ADA2 deficiency.
The clinical manifestations of adenosine deaminase 2 deficiency ranged in severity from limited cutaneous involvement to severe multisystemic vasculitis; one-third of our cases (5 of 15) were currently asymptomatic, and required close monitoring. We recommend CECR1 screening for unaffected siblings of index cases, cases of familial vasculitis, and cases of PAN that is resistant to standard treatment
Deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1.
IL-17 receptor A and adenosine deaminase 2 deficiency due to deletion mutations was found in siblings with chronic mucocutaneous candidiasis and chronic systemic inflammation.
This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation in CECR1.
Ectopic expression of miR-146b-3p suppressed ADA2 expression, activity, and TNF-alpha release in the AGA-treated human macrophages
In patients with unexplained young-onset lacunar stroke accompanied by systemic inflammation and a positive family history suspicious of recessively inherited disease, ADA2 deficiency needs to be considered in the differential diagnosis.
ADA2 (CECR1) may act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process.
We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1.
Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis.
Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.
Increased ADA2 expression and activity are identified in human and porcine retinas with diabetes.
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.
, adenosine deaminase CECR1-A
, cat eye syndrome chromosome region, candidate 1
, cat eye syndrome critical region protein 1 homolog A
, adenosine deaminase CECR1
, cat eye syndrome critical region protein 1-like
, cat eye syndrome critical region protein 1
, insect-derived growth factor-B-like protein
, adenosine deaminase 2
, Cat eye syndrome critical region protein 1 homolog