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The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome

Z. A. Nesterenko, N. B. Kuzmenko, V. I. Burlakov, E. A. Victorova, V. A. Vedmedskaya, D. E. Pershin, A. M. Kieva, I. V. Mersiyanova, T. V. Varlamova, E. V. Raykina, E. V. Deripapa
2019 Voprosy gematologii/onkologii i immunopatologii v pediatrii  

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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
more » ... opriate 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.
doi:10.24287/1726-1708-2019-18-3-104-111 fatcat:olgembt4dvcpfizi2v4vjeowye
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Z. A. Nesterenko, N. B. Kuzmenko, V. I. Burlakov, E. A. Victorova, V. A. Vedmedskaya, D. E. Pershin, A. M. Kieva, I. V. Mersiyanova, T. V. Varlamova, E. V. Raykina, E. V. Deripapa. "The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome." Voprosy gematologii/onkologii i immunopatologii v pediatrii 18.3 (2019) 104-111