Agammaglobulinemia: causative mutations and their implications for novel

摘要: ‡Authors contributed equally Agammaglobulinemias are primary (inherited) immunodeficiencies characterized by the lack of functional B-cells and antibodies, caused mutations in genes encoding components pre-B-cell or B-cell receptor, their signaling pathways. The known genetic defects do not account for all agammaglobulinemic patients, suggesting that novel underlying disease remain to be found. While efficient, current lifemaintaining therapy with immunoglobulins antibiotics is non-curative, prompting research into alternative treatment strategies aim at rescuing expression affected protein, thus giving rise B-cells. These include gene therapy, which could used correct defective replace it a copy. For number defects, another modulate splicing transcripts. these technologies yet ready clinical trials agammaglobulinemia, advances genomic targeting likely make this option viable near future.