Martin Šimo, Andrea Hlubeková, Miloslav Dvorák, Vlastimil Horný, Patrícia Frimmelová, Ľubomír Gernáth, Katarína Carter, Cyprián Kučera, Jana Šuchorová
Ataxia telangiectasia (AT) – Henner-Louis-Bar‘s syndrome is a genetic disease of the immune system associated with an impairment of other organ systems. It is characterised by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent respiratory infections, immunodeficiency in both humoral (B-lymphocytes) and cell (T-lymphocytes) components and predisposition to particular types of tumours. A disease is progressive and affects males and females equally; the mean age of patients at the time of clinical manifestation is from 2.5 to 7 years. The true incidence of AT is unknown. Despite being considered a rare disease, its prevalence is estimated between 1 : 40 000 to 50 000.