Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children16910.24287/1726-1708-2016-15-3-40-45CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯSpecificities of the course of Wiscott-Aldrich syndrome depending on WASP gene mutationsОсобенности течения синдрома Вискотта-Олдрича в зависимости от мутаций гена WASPDidkovskiyNikolay A.ДидковскийНиколай Антонович
Russian Federation
didcovskinic@gmail.comKrynskiySergey A.КрынскийСергей Андреевич
Russian Federation
srgkr002@gmail.comMalashenkovaIrina K.МалашенковаИрина Константиновна
Russian Federation
malashenkova.irina@bk.ruRaykinaElena V.РайкинаЕлена Владиславовна
Russian Federation
e_raikina@inbox.ruVarlamovaTatyana V.ВарламоваТатьяна Владимировна
Russian Federation
varltatwell@mail.ruFederal Research and Clinical Centre of Physico-Chemical Medicine, Russian Federal Medical-Biological AgencyФедеральный научно-клинический центр физико-химической медицины Федерального медико-биологического агентства РоссииNational Research Centre «Kurchatov Institute»Национальный исследовательский центр «Курчатовский институт»Dmitry Rogachev Federal Research Centre of Paediatric Haematology, Oncology and Immunology, Ministry of Health of the Russian FederationФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России19092016153404519092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/169

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.

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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