Publications by authors named "A Perez-Portilla"
Genetic Variation in Two Populations From Ecuador Highlands-Extensive Copy-Number Variation, Distinctive Distribution of Functional Polymorphisms, and a Novel, Locally Common, Chimeric (CD16B/A) Gene.
Manuela Moraru Adriana Perez-Portilla Karima Al-Akioui Sanz Alfonso Blazquez-Moreno Antonio Arnaiz-Villena
Front Immunol
June 2021
Fcγ receptors (FcγR), cell-surface glycoproteins that bind antigen-IgG complexes, control both humoral and cellular immune responses. The locus on chromosome 1q23.3 comprises five homologous genes encoding low-affinity FcγRII and FcγRIII, and displays functionally relevant polymorphism that impacts on human health.
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- 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.