HSCT cures ADA2 deficiency
نویسندگان
چکیده
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 کاملPW03-021 - HSCT in mevalonate kinase deficiency
Introduction Mevalonate kinase deficiency (MKD) has a wide spectrum and severity of clinical manifestation. Patients with mutations in MVK gene leading to complete lack of the enzyme, suffer from the most severe form of disease, also known as mevalonic acydosis, whereas defects with preserved, but insufficient enzyme activity present with autoinflammatory syndrome , also known as hiperIgD syndr...
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...
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ژورنال
عنوان ژورنال: Blood
سال: 2017
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2017-10-811125