B2Mmutationer
B2Mmutationer is a term referring to genetic alterations in the B2M gene, which encodes beta-2-microglobulin, a non-polypeptide component essential for the stability and cell-surface expression of MHC class I molecules. The B2M gene is foundational for antigen presentation to CD8+ T cells, and mutations can be inherited (germline) or acquired in somatic cells.
Mutations in B2M can take several forms, including frameshift, nonsense, splice-site, and missense changes. When B2M
Clinically, germline B2M defects can cause MHC class I deficiency, resulting in increased susceptibility to viral
Diagnosis typically involves sequencing approaches such as targeted gene panels or whole-exome sequencing to identify B2M