ISSN ONLINE: 2558-815X
ISSN PRINT: 1584-9244
ISSN-L: 1584-9244

Clinical and immunological presentation of ataxia-telangiectasia



Introduction. Ataxia-telangiectasia (A-T) is a neurodegenerative disorder characterised by progressive ataxia, telangiectasia, immunodeficiency, increased susceptibility to malignancies and radiation sensitivity.

The objective of the study was to determine the clinical and immunological features, as well as the consequences of A-T in the Ukrainian population.

Material and methods. Sixty-four patients with A-T, registered at the Ukrainian National Registry of primary immunodeficiencies, were first included in the study. The evaluation of clinical signs and investigations were possible in 53/64 patients with A-T.

Results. Neurological signs and telangiectasies were evidenced in all patients, and were followed by recurrent infections (81.1%), lymphoid hypoplasia (66.0%), and malignancies (15.1%). Poor weight gain was observed in 73.6% of patients, orthopaedic disorders in 52.8%, and bronchiectasis in 30.8%. High alpha-fetoprotein levels were seen in 93.5% of patients, mean level- 150.3 IU/mL. Among immunoglobulin changes, the most significant was a decreased IgA level (83.0%), followed by a high IgM level (50.9%), low IgG (18.9%) and IgE levels (49.1%). Reduced CD3, CD4 and CD8 T-lymphocytes were observed in 85.7% of patients. Infections and cancer were the most often causes of mortality. The mean age at death was 14.1 years, ranging from 6 to 21 years.

Conclusions. Ataxia in combination with recurrent infections is the key to A-T diagnosis. In addition to syno-pulmonary infections, pyoderma and stomatitis are also frequent presentations. Children with ataxia should be referred to an immunologist, as well as genetic testing should be recommended for all patients with ataxia for timely diagnosis.

Keywords: ataxia-telangiectasia, clinical presentation, immunological features.

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Address for correspondence:
Department of Children’s Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University
Address: Maidan Voli no 1, Ternopil, 46001, Ukraine
E-mail:; Phone +380686218248


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Boyarchuk O, Kostyuchenko L, Volokha A, Bondarenko A, Hilfanova A, Boyko Y, Kinash M, Hariyan T, Stepanovskyy Y, Volyanska L, Chernyshova L. Clinical and immunological presentation of ataxia-telangiectasia. Arch Balk Med Union. 2020;55(4):573-581.