Email this article A familial case of Louis–Bar syndrome
- Authors: Asekretova T.V.1, Sineokova A.V.2, Lebedev V.V.1, Rodina Y.A.3, Deripapa E.V.3
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Affiliations:
- Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
- Chaika Clinics
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 21, No 2 (2022)
- Pages: 136-140
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 30.04.2022
- Accepted: 11.05.2022
- Published: 08.07.2025
- URL: https://hemoncim.com/jour/article/view/608
- DOI: https://doi.org/10.24287/1726-1708-2022-21-2-136-140
- ID: 608
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Abstract
Ataxia-telangiectasia (АТ) represents a typical syndromic form of primary immunodeficiencies. Besides progressive neurological features, patients with AT have a high risk of malignancies, as well as autoimmune complications, with interstitial lung disease being one of the most frequent. AT is also characterized by a significant diagnostic delay, which was demonstrated in our case report. The patients’ parents gave their consent to the use of their children’s data, including photographs, for research purposes and in publications.
About the authors
T. V. Asekretova
Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
Author for correspondence.
Email: tasekretova75@gmail.com
ORCID iD: 0000-0002-1246-5898
Tatiana V. Asekretova, pediatric oncologist
Children's Regional Clinical Hospital
Department of Oncology, Hematology and Chemotherapy
350007
1 Pobedy Square
Krasnodar
Russian FederationA. V. Sineokova
Chaika Clinics
Email: annettechebarkova555@gmail.com
ORCID iD: 0000-0002-6508-8731
Moscow
Russian FederationV. V. Lebedev
Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
Email: v_lebedev64@mail.ru
ORCID iD: 0000-0001-6934-2349
Krasnodar
Russian FederationYu. A. Rodina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: rodina.julija@rambler.ru
ORCID iD: 0000-0001-9857-4456
Moscow
Russian FederationE. V. Deripapa
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Email: deripapa@mail.ru
ORCID iD: 0000-0002-9083-4783
Moscow
Russian FederationReferences
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