Email this article Description of the familial case of Wiskott–Aldrich syndrome with mild phenotype
- Authors: Anderjanova L.H.1, Laberko A.L.1, Mersijanova I.V.1, Mann S.G.1, Raykina E.V.1, Kuzmenko N.B.1
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Affiliations:
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
- Issue: Vol 17, No 1 (2018)
- Pages: 97-102
- Section: Статьи
- Submitted: 09.08.2018
- Published: 09.02.2018
- URL: https://hemoncim.com/jour/article/view/33
- DOI: https://doi.org/10.24287/1726-1708-2018-17-1-97-102
- ID: 33
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Abstract
Wiskott–Aldrich syndrome (WAS) is a Х-linked combined immunodeficiency, characterized by thrombocytopenia, eczema, infections and predisposition to autoimmunity and tumors. The severity of the disease correlates with localization of the mutations in the WAS gene. In the most cases WAS is lethal during the first years of life, except of rare patients with the milder XLT. HSCT is a curative option for the majority of patients with WAS. In some cases conservative management is possible. This article presents a family case of the milder form of Wiskott–Aldrich syndrome.14 y.o. patient's condition is described in details.
About the authors
L. H. Anderjanova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, ImmunologyRussian Federation
A. L. Laberko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0002-2354-2588
Russian Federation
I. V. Mersijanova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0003-0471-2956
Russian Federation
S. G. Mann
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0002-1014-5196
Russian Federation
E. V. Raykina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
ORCID iD: 0000-0002-7634-2053
Russian Federation
N. B. Kuzmenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
Author for correspondence.
Email: plunge@list.ru
ORCID iD: 0000-0002-1669-8621
Head of the Department of epidemiology and monitoring of immunodeficiencies
Russia 117997, Moscow, Samory Mashela st., 1
+7 (495) 287-6570, ext. 5541
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