منابع مشابه
B cells characterization in ADA2 Deficiency patients
Introduction ADA2 deficiency, a recently described disease, is characterized by systemic vasculopathy and episodes of strokes. The defect is due to a loss of function mutation of CECR1 gene, codifying for Adenosine Deaminase 2 protein. This protein regulates the catabolism of extracellular adenosine, which we have recently shown is an important regulator of Class Switch Recombination in B lymph...
متن کاملMonogenic polyarteritis: the lesson of ADA2 deficiency
The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease characterised by an early onset vasculopathy with livedoid skin rash associated with systemic manifestations, CNS involvement and mild immunodeficiency.This condition is secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1, that encodes for t...
متن کاملDistinct cerebrovascular features in patients with ADA2 deficiency
Methods We reviewed the contrast-enhanced brain MR, MR angiography (MRA), and digital subtraction angiography (DSA) examinations of 3 male patients with a confirmed molecular diagnosis of ADA2 deficiency and CNS involvement: two brothers (R312X and E328D mutations in compound heterozygosis) and a third unrelated patient (T360A homozygosis). Age at first MR examination was 6 years, 1 year 5 mont...
متن کاملDermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.
IMPORTANCE Mutations in the CERC1 gene associated with deficiency in the ADA2 protein (DADA2) have been implicated in the pathogenesis of cutaneous polyarteritis nodosa (cPAN) and early-onset vasculopathy. DADA2 is not only limited to cPAN and vasculopathy but also includes immunodeficiency that affects several cellular compartments, including B cells; however, some patients appear to have a mo...
متن کاملLong-term efficacy of etanercept in ADA2 deficiency
Results A boy born from non-consanguineous parents at the age of 2 years presented with livedo reticularis associated to elevation of acute phase reactants and recurrent episodes of arthralgia, fever and hypertension responsive to prednisone. At the age of 6 years he presented a haemorrhagic stroke of the left temporal lobe. A skin biopsy was consistent with a diagnosis of polyarteritis. The pa...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2014
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2943