Genetics of vasculitis.
Johannesburg, South Africa. In Curr Opin Rheumatol, 15 Dec 2014
These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency.
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.
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Lyon, France. In Pediatr Rheumatol Online J, Dec 2013
BACKGROUND: A reduction of ADA2 activity due to autosomal recessive loss of function mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis with multiple strokes in children to limited cutaneous disease in middle-aged individuals.
[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.