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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 (show TADA2A Proteins) 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 (show MAS1 Proteins)), and stimulator of interferon (show IFNA Proteins) 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 (show MEFV Proteins)
Findings indicate that ADA2 (show TADA2A Proteins) 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 (show TADA2A Proteins) 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 (show IL17RA Proteins) 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 (show TADA2A Proteins) deficiency though they were homozygous for the same R169Q mutation in CECR1.
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