CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

Abstract

Question In Behcet’s disease (BD), vasculitis involving blood vessels of nearly all sizes and types may underlie the diverse tissue and organ involvement. Loss of function mutations in the CECR1 gene (encoding adenosine deaminase 2) have recently been shown to cause a recessive genetic disease, deficiency of adenine deaminase 2 (DADA2). Patients with DADA2 exhibit systemic vasculopathy characterized by intermittent fevers, skin rash, and neurovascular manifestations along with other features that can lead to a diagnosis of polyarteritis nodosa. Patients homozygous for the CECR1 p.Gly47Arg mutation are reported in two nonconsanguineous Turkish families and this mutation is found at low frequency in the Turkish population. We therefore attempted to determine whether some BD cases may be explained by adenosine deaminase 2 deficiency and whether this mutation contributes to BD risk in patients of Turkish ancestry.