Email this article The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome
- Authors: Nesterenko Z.A.1, Kuzmenko N.B.1, Burlakov V.I.1, Victorova E.A.1, Vedmedskaya V.A.1, Pershin D.E.1, Kieva A.M.1, Mersiyanova I.V.1, Varlamova T.V.1, Raykina E.V.1, Deripapa E.V.1
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Affiliations:
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
- Issue: Vol 18, No 3 (2019)
- Pages: 104-111
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 13.09.2019
- Accepted: 13.09.2019
- Published: 13.09.2019
- URL: https://hemoncim.com/jour/article/view/267
- DOI: https://doi.org/10.24287/1726-1708-2019-18-3-104-111
- ID: 267
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Abstract
Primary immunodeficiencies (PIDS) are genetically caused heterogeneous diseases of the immune system. One of the genetic phenomenon affecting the phenotypic diversity of PIDS is a reverse somatic mosaicism (RM) observed in different groups of PIDS. The majority of RM cases are described in patients with Wiskott–Aldrich syndrome (WAS). Despite the fact that PM does not always lead to a mild form of the disease, the presence of this phenomenon can cause the delay of diagnosis and start of the appropriate treatment. This article presents the case of a patient with Wiskott–Aldrich syndrome with a reverse mutation in the WAS gene. Parents gave their consent to use information about the child in the article.
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About the authors
Z. A. Nesterenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-4427-054X
Moscow Россия
N. B. Kuzmenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
Author for correspondence.
Email: plunge@list.ru
ORCID iD: 0000-0002-1669-8621
Natalia B. Kuzmenko, MD, PhD, the head of the department of epidemiology and monitoring of immunodeficiencies
117997, Moscow, Samory Mashela st., 1
РоссияV. I. Burlakov
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-1267-9957
Moscow Россия
E. A. Victorova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-2427-1417
Moscow Россия
V. A. Vedmedskaya
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-7247-4844
Moscow Россия
D. E. Pershin
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-6148-7209
Moscow Россия
A. M. Kieva
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-2467-2840
Moscow Россия
I. V. Mersiyanova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-0471-2956
Moscow Россия
T. V. Varlamova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-0501-8686
Moscow Россия
E. V. Raykina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow Россия
E. V. Deripapa
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-9083-4783
Moscow Россия
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