Case Report: Novel variants in the MYD88 gene (c.104T>C, c.141G>C) in a patient with recurrent abscesses as a cause of type 68 immunodeficiency
This report expands the genetic spectrum of immunodeficiency 68 by identifying novel <i>MYD88</i> mutations. Our findings highlight the value of genetic testing in severe, recurrent bacterial infections, irrespective of conventional laboratory results, and demonstrate improved outcomes achievable with modern management.
Authors
- Dmitriy Korostin (ORCID: https://orcid.org/0000-0003-1343-2550)
- Tatiana V. Kulichenko (ORCID: https://orcid.org/0000-0002-7447-0625)
- Anastasiia A. Buianova (ORCID: https://orcid.org/0000-0001-7894-9222)
- Iuliia Vasiliadis (ORCID: https://orcid.org/0000-0003-2863-1659)
- Artem A. Ivanov (ORCID: https://orcid.org/0000-0002-6137-6138)
- Yulia S. Lashkova
- Vera Belova (ORCID: https://orcid.org/0000-0001-5930-1965)
- Alina Samitova (ORCID: https://orcid.org/0009-0001-8941-7034)
Institutions
- Pirogov Russian National Research Medical University (RU)
- Russian Children's Clinical Hospital (RU)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-12-17
- DOI
- https://doi.org/10.3389/fimmu.2025.1683892
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00