Publications by authors named "Miriam Agundez-Llaca"
Article Synopsis
- Mutations in T-cell antigen receptor (TCR) genes lead to rare immunodeficiency diseases, causing problems with TCR expression on cell surfaces and resulting in low T lymphocyte counts.
- Detailed analysis of a CD247-deficient patient revealed spontaneous mutations that restored CD247 expression in some T cells, though not as effectively as the normal version of the gene.
- The study found that mutations in the CD247 gene are common, and it suggests that genes related to primary immunodeficiency diseases might have a higher likelihood of experiencing mutations that could reverse genetic defects.
