Ekaterina Truchina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Russian FederationPresentation Title:
WHIM syndrome. Bone marrow examination is the key to diagnosis
Abstract
WHIM syndrome is an extremely rare combined primary immunodeficiency whose symptoms are reflected in the name reflected in the name: warts, hypogammaglobulinaemia, infections and myelokathexis. Myelokathexis is the most informative sign to distinguish WHIM syndrome from other forms of neutropenia. Difficulties in diagnosis are due to a number of reasons:
1.myelokathexis can be detected only by examination of bone marrow smears
2. rare occurrence
3. insufficient awareness of laboratory diagnosticians.
Late diagnosis and lack of specific treatment remain the main problems requiring alertness of medical specialists to the typical signs of the disease and the collaboration of different centres to determine the management of patients.
Biography
From 2008 to 2009, Ekaterina Truchina - scientific researcher at the Federal State Scientific Institution Research Institute of Eye Diseases focused on innovative ophthalmic research. In 2011, the professional journey continued at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology as a laboratory doctor in the cytologic lab. This role has centered on the critical study of bone marrow, blood, and cerebrospinal fluid (liquor) in oncology and hematology patients. Through meticulous laboratory work, this individual plays a vital role in enhancing diagnostic accuracy and patient care in pediatric hematology and oncology, demonstrating a strong commitment to advancing medical science.
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