Genetics of vasculitis.
Johannesburg, South Africa. In Curr Opin Rheumatol, 2015
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.
When less is more: primary immunodeficiency with an autoinflammatory kick.
Bethesda, United States. In Curr Opin Allergy Clin Immunol, 2014
First, a phenotypic spectrum, including livedo racemosa, fever with early-onset stroke, polyarteritis nodosa, and Sneddon syndrome, is caused by loss-of-function mutations in cat eye syndrome chromosome region, candidate 1 (CECR1), encoding adenosine deaminase 2. Adenosine deaminase 2 is a secreted protein expressed primarily in myeloid cells, and a regulator of macrophage differentiation and endothelial development.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Aş Şanamayn, Syria. In N Engl J Med, 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, 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.
Integrated, genome-wide screening for hypomethylated oncogenes in salivary gland adenoid cystic carcinoma.
Baltimore, United States. In Clin Cancer Res, 2011
After initial validation, eight candidates showed hypomethylation in ACC: AQP1, CECR1, C1QR1, CTAG2, P53AIP1, TDRD12, BEX1, and DYNLT3.