Newly recognized Mendelian disorders with rheumatic manifestations.
Bethesda, United States. In Curr Opin Rheumatol, 20 Aug 2015
Mutations in ADA2, TRNT1 and COPA, AP1S3, and TNFRSF11A cause complex syndromes; loss-of-function mutations in enzymes and molecules are linked to the generation of 'cellular stress' and the release of inflammatory mediators that likely cause the inflammatory disease manifestations.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Aş Şanamayn, Syria. In N Engl J Med, Apr 2014
RESULTS: All nine patients carried recessively inherited mutations in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2), that were predicted to be deleterious; these mutations were rare or absent in healthy controls.
[Adenosine deaminase: isoenzymes ADA1 and ADA2].
In Pol Merkur Lekarski, 1997
The isoenzymes ADA1 and ADA2 of the enzyme adenosine deaminase (ADA 18.104.22.168) deaminate mainly two nucleotides: adenosine and 2'-deoxyadenosine, molecules with many effects on human cells.