Tatyana Vladimirovna Konyukhova
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
A dedicated laboratory doctor, with experience spanning from 2009 to the present, has made significant contributions to pediatric healthcare. Starting at the Russian Children’s Clinical Hospital, expertise was developed in cytology. Since 2011, work at the Dmitry Rogachev National Medical Research Center has focused on studying bone marrow, blood, and cerebrospinal fluid in oncology and hematology patients. Additionally, since 2022, involvement as an assistant at Pirogov Russian National Research Medical University enhances both diagnostic practices and the education of future healthcare professionals. This career is marked by a commitment to improving pediatric patient outcomes through advanced laboratory diagnostics.
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