The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome-Reference-Cited by-同舟云学术

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

Published:2019-09-13 Issue:3 Volume:18 Page:104-111
ISSN:2414-9314
Container-title:Pediatric Hematology/Oncology and Immunopathology
language:
Short-container-title:Voprosy gematologii/onkologii i immunopatologii v pediatrii

Author:

Nesterenko Z. A.¹^ORCID,Kuzmenko N. B.¹^ORCID,Burlakov V. I.¹^ORCID,Victorova E. A.¹^ORCID,Vedmedskaya V. A.¹^ORCID,Pershin D. E.¹^ORCID,Kieva A. M.¹^ORCID,Mersiyanova I. V.¹^ORCID,Varlamova T. V.¹^ORCID,Raykina E. V.¹^ORCID,Deripapa E. V.¹^ORCID

Affiliation:

1. Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation

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.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

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