Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children55110.24287/1726-1708-2021-20-3-126-131CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯHemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFIГеморрагическая тромбоцитопатия с дефектом сигнализации CalDAG-GEFIhttps://orcid.org/0000-0001-5606-4335KoposovaA. O.КопосоваА. О.
Russian Federation

Anastasia O. Koposova, hemotologist of Outpatient Consultative Unit

1 Samory Mashela St., Moscow 117997 

Копосова Анастасия Олеговна, врач-гематолог консультативного отделения

117997, Москва, ул. Саморы Машела, 1

anastasia.koposova@fccho-moscow.ruhttps://orcid.org/0000-0003-4567-1871FedorovaD. V.ФёдороваД. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2057-2036PshonkinA. V.ПшонкинА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-5209-2099PoletaevA. V.ПолетаевА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7534-3863SereginaE. A.СерёгинаЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-4503-0735PlyasunovaS. A.ПлясуноваС. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-6905-2878PolokhovD. M.ПолоховД. М.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-0900-6874KurnikovaM. A.КурниковаМ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7634-2053RaykinaE. V.РайкинаЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1014-5196MannS. G.МаннС. Г.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4384-6754ZharkovP. A.ЖарковП. А.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава РоссииCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of SciencesФГБУН Центр теоретических проблем физико-химической фармакологии РАН081020212031261310810202108102021Copyright ©; 2021, «D. Rogachev NMRCPHOI»Copyright ©; 2021, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2021«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/551

Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.

Геморрагическая тромбоцитопатия с дефектом сигнализации тромбоцитов CalDAG-GEFI является редким заболеванием, связанным с мутацией в гене RASGRP2. К настоящему времени имеются сведения о данном заболевании у не менее чем 10 человек в мире. Мы представляем описание клинического наблюдения данной патологии у ребенка 9 лет, а также предлагаем анализ доступной литературы, посвященной патогенетическим аспектам, клиническим проявлениям и распространенности этого редкого заболевания. Родители пациентки дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.

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