Особенности течения синдрома Вискотта-Олдрича в зависимости от мутаций гена WASP

Статья в Elpub

Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 40-45

Особенности течения синдрома Вискотта-Олдрича в зависимости от мутаций гена WASP

Дидковский Николай Антонович, Крынский Сергей Андреевич, Малашенкова Ирина Константиновна, Райкина Елена Владиславовна, Варламова Татьяна Владимировна

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

Аннотация

Синдром Вискотта-Олдрича (СВО) - редкое заболевание, наследуемое по Х-сцепленному рецессивному типу, причиной которого являются мутации гена WASP. Болезнь характеризуется микротромбоцитопенией, нарушениями клеточного и гуморального иммунитета, кровотечениями, экземой, повышенной частотой инфекций, аутоиммунных заболеваний и злокачественных новообразований. В статье приводятся современные данные о роли белка WASP в механизмах гемостаза и иммунной защиты, рассматриваются предполагаемые молекулярные механизмы патогенеза СВО, обсуждается взаимосвязь между конкретными мутациями гена WASP и клиническими проявлениями заболевания. Для иллюстрации приводится клиническое наблюдение СВО с нетипичными клиническими проявлениями и отсутствием микротромбоцитопении.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 40-45

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

Didkovskiy Nikolay A., Krynskiy Sergey A., Malashenkova Irina K., Raykina Elena V., Varlamova Tatyana V.

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

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.

References

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9. Ochs HD. Mutations of the Wiskott-Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes. Immunol Res. 2009;44(1-3):84-8.

10. Wiskott A. Familiarer angeborener Morbus Werlhofii. Monastsschr. Monastsschr. Kinderleil. Kd. 1937;68:212-6.

11. Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157-75.

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