Email this article Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI
- Authors: Koposova A.O.1, Fedorova D.V.1, Pshonkin A.V.1, Poletaev A.V.1, Seregina E.A.1,2, Plyasunova S.A.1, Polokhov D.M.1, Kurnikova M.A.1, Raykina E.V.1, Mann S.G.1, Zharkov P.A.1
-
Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences
- Issue: Vol 20, No 3 (2021)
- Pages: 126-131
- Section: CLINICAL OBSERVATIONS
- Submitted: 08.10.2021
- Accepted: 08.10.2021
- Published: 08.10.2021
- URL: https://hemoncim.com/jour/article/view/551
- DOI: https://doi.org/10.24287/1726-1708-2021-20-3-126-131
- ID: 551
Cite item
Full Text
Abstract
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.
Keywords
About the authors
A. O. Koposova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: anastasia.koposova@fccho-moscow.ru
ORCID iD: 0000-0001-5606-4335
Anastasia O. Koposova, hemotologist of Outpatient Consultative Unit
1 Samory Mashela St., Moscow 117997
Russian FederationD. V. Fedorova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4567-1871
Moscow
Russian FederationA. V. Pshonkin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-2057-2036
Moscow
Russian FederationA. V. Poletaev
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-5209-2099
Moscow
Russian FederationE. A. Seregina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation; Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences
ORCID iD: 0000-0002-7534-3863
Moscow
Russian FederationS. A. Plyasunova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-4503-0735
Moscow
Russian FederationD. M. Polokhov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-6905-2878
Moscow
Russian FederationM. A. Kurnikova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-0900-6874
Moscow
Russian FederationE. V. Raykina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow
Russian FederationS. G. Mann
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-1014-5196
Moscow
Russian FederationP. A. Zharkov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4384-6754
Moscow
Russian FederationReferences
Supplementary files
