AI Article Synopsis
- Progressive multifocal leukoencephalopathy (PML) is a rare and serious brain disease linked to the JC virus, primarily affecting immunocompromised individuals.
- A case is reported involving a patient with PML who has hypogammaglobulinemia and a mutation in the TCF3 gene, which is crucial for B cell development.
- This case highlights a novel association, as it is the first documented instance of PML occurring in someone with a TCF3 gene deficiency and common variable immunodeficiency (CVID).
Article Abstract
Progressive multifocal leukoencephalopathy (PML) is a rare and potentially fatal demyelinating disease of the central nervous system (CNS) caused by JC virus; it was previously seen predominantly in immunocompromised patients and those under intense immune suppression. Here, we report the case of a patient with PML with hypogammaglobulinemia and a heterozygous mutation in the TCF3 gene. As the TCF3 gene has been demonstrated to play an important role in the B cell differentiation process and the patient had no other medical history of the immune system, he was diagnosed with common variable immunodeficiency (CVID). To our knowledge, this is the first case of patient with a TCF3 gene deficiency and hypogammaglobulinemia who developed PML.
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| http://dx.doi.org/10.1007/s13365-022-01092-1 | DOI Listing |
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