Ataxia‐telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with
immunodeficiency and an increased risk of developing cancer, caused by mutations in the …

Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability
syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer …

DNA methylation is an important regulator of genetic information in species ranging from
bacteria to humans. DNA methylation appears to be critical for mammalian development …

ATM is often dubbed the master regulator of the DNA double stranded break (DSB)
response. Since proper induction and repair of DNA DSBs forms the core of immunological …

Patients with ICF syndrome can be recognized by the presence of a variable
immunodeficiency, instability of the pericentromeric heterochromatin of, in particular …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder
with multisystem involvement and cancer predisposition, caused by mutations in the A‐T …

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a
primary immunodeficiency, predominantly characterized by agammaglobulinemia or …

BACKGROUND: Ataxia telangiectasia (AT) is a multisystem DNA-repair disorder caused by
mutations in the ataxia telangiectasia mutated (ATM) gene. Patients with AT have reduced B …

Chromosomal abnormalities associated with hypomethylation of classical satellite regions
are characteristic for the ICF immunodeficiency syndrome. We, as well as others, have found …

Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia,
telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory …