Specificities of the course of Wiscott-Aldrich syndrome depending on WASP gene mutations

Nikolay A. Didkovskiy; Дидковский Николай Антонович; Sergey A. Krynskiy; Крынский Сергей Андреевич; Irina K. Malashenkova; Малашенкова Ирина Константиновна; Elena V. Raykina; Райкина Елена Владиславовна; Tatyana V. Varlamova; Варламова Татьяна Владимировна

doi:10.24287/1726-1708-2016-15-3-40-45

Specificities of the course of Wiscott-Aldrich syndrome depending on WASP gene mutations

Authors: Didkovskiy N.A.¹, Krynskiy S.A.¹^,2, Malashenkova I.K.², Raykina E.V.³, Varlamova T.V.³
Affiliations:
1. Federal Research and Clinical Centre of Physico-Chemical Medicine, Russian Federal Medical-Biological Agency
2. National Research Centre «Kurchatov Institute»
3. Dmitry Rogachev Federal Research Centre of Paediatric Haematology, Oncology and Immunology, Ministry of Health of the Russian Federation
Issue: Vol 15, No 3 (2016)
Pages: 40-45
Section: CLINICAL OBSERVATIONS
Submitted: 19.09.2018
Published: 19.09.2016
URL: https://hemoncim.com/jour/article/view/169
DOI: https://doi.org/10.24287/1726-1708-2016-15-3-40-45
ID: 169

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Abstract

Wiscott-Aldrich syndrome (WAS) is a rare X-liked recessive disease caused by mutation of the WASP gene. Disease is characterized by microthrombocytopenia, disorders of cell-mediated and humoral immunity, bleeding, eczema, frequent occurrence of infections, autoimmune diseases and malignancies. The article presents recent evidence about the role of WASP protein in the mechanisms of haemostasis and immune defence, discusses hypotheses for molecular mechanisms of WAS pathogenesis and interrelations between particular WASP gene mutations and clinical manifestations of disease. The review is illustrated by a clinical case of WAS with untypical clinical manifestations and absence of microthrombocytopenia illustrates.

Keywords

микротромбоцитопения, синдром Вискотта-Олдрича, Х-сцепленная тромбоцитопения, microthrombocytopenia, Wiscott-Aldrich syndrome, X-linked thrombocytopenia

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Specificities of the course of Wiscott-Aldrich syndrome depending on WASP gene mutations

Full Text

Abstract

Keywords

About the authors

Nikolay A. Didkovskiy

Sergey A. Krynskiy

Irina K. Malashenkova

Elena V. Raykina

Tatyana V. Varlamova

References

Supplementary files