Distinct cerebrovascular features in patients with ADA2 deficiency
نویسندگان
چکیده
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 months, and 6 years 2 months, respectively.
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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
OBJECTIVE To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1 METHODS: We present a case series of nine ADA2-deficient patients with an identical homozygous R169Q mutation. Clinical and diagnostic data were collected and available MRI studies were reviewed. We performed genealogy and haploty...
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