… Age of onset is quite variable usually presenting in adulthood, and … A milder phenotype with
late-onset and a phenotype with … in ataxia telangiectasia (AT) and in ataxias presenting with …

… weight loss may be the presentations in adulthood. … The disease is caused by mutations in
ataxia telangiectasia … B cells, skewed/t cell phenotype and reduced recent thymic emigrants in …

… that patients with ataxia telangiectasia generally have a mild … immunodeficiency and an
infectious phenotype (see later) [ … A subset of patients with classical AT has severe early onset …

… or early adulthood with milder cerebellar ataxia and a slower … –phenotype correlations in
ataxia telangiectasia patients with … AT patients along with clinical presentation and ATM activity …

… Here, we present a single-nucleus transcriptomic atlas of the adult … on an activated phenotype,
demonstrating that this is a cell-… The iPSC-derived findings presented here represent a …

… the human immunological T-cell phenotype and that HSCT … Values are presented as the
means (±SEM) and were … - and residual host-derived mature hematopoietic cells and the de …

… cause a severe AT phenotype, whereas missense mutations … to lymphomas and leukemias,
8 adults are prone to both … We describe an infant whose initial and only presentation of …

… Due to phenotypic similarities between primary immunodeficiency … to date are presented
in Table 1. Among these, the … In light of the increased sensitivity of AT patients to ionising …

… exist, which differ significantly in their clinical presentation and … cellular phenotype of
Nestor-Guillermo progeria syndrome. … is the most common premature aging disorder of adult …

… .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 …