… -related classical characteristics are presented on Table I. … activation, antibody dependent
cellular toxicity, opsonization and … oculocutaneous telangiectasia as well as forms with adult …

… The classical DC phenotype consists of the mucocutaneous … Children with multisystem clinical
presentations, such as HH … present late in adulthood, and short but not very short telomere …

… saccade in a patient with ataxia telangiectasia. (D) Gaze-evoked … associated with a milder
phenotype. In Japan, AOA1 is the … Forms of AT in adults have been described either with early …

… and a complex clinical phenotype. Neurological decline may be … Both studies, the one in
adult and our recent study in children, … Values are presented as arithmetic means with SDs. For …

… on an ataxia telangiectasia child with atypical phenotype who … as well as atypical clinical
presentations that are not usually … neurological progression or an adult-onset disorder that …

… .1, 2, 3 The phenotype of AT, including the spectrum of … onset disease (classical AT; C-AT)
to a milder childhood/adult-onset … most likely caused by a combination of intrinsic T- and B-cell …

… approach for individuals presenting with adult-onset HCA, … the common outcome of cerebellar
Purkinje cell loss, accounting for the … ataxia, the AR HCAs demonstrate greater phenotypic …

… of DNA-PKcs, mainly based on the phenotypes of DNA-PKcs-… of mature lymphocytes was
normal, although a mild defect in … thought more susceptible to errors than classical NHEJ [124]. …

… the classical AT phenotype but the severity of the clinical presentation can be very different
… AFP levels are very high in all newborns, and normally decrease to adult levels over the first …

… of slowly progressive adult-onset cerebellar ataxia with bilateral … 3 sibblings presented the
complete phenotype of CANVAS, … 2 and particularly ataxia telangiectasia [80], presenting as …