Molecular defects in T- and B-cell primary immunodeficiency diseases

• Published in: Nature reviews. Immunology Vol. 5; no. 11; pp. 880 - 892
• Main Authors: Cunningham-Rundles, Charlotte, Ponda, Prashant P
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.11.2005
• Subjects: B-Lymphocytes - immunology; Bacterial infections; Bone Marrow Transplantation; Defects; Disease; Female; Genetic Therapy; Humans; Immune system; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Immunologic Deficiency Syndromes - therapy; Infections; Kinases; Lymphocytes; Male; Mutation; Newborn babies; Proteins; Severe Combined Immunodeficiency; Stem Cell Transplantation; Stem cells; T-Lymphocytes - immunology; Transplants & implants; New York; United States > US
• ISSN: 1474-1733; 1474-1741
• DOI: 10.1038/nri1713

More than 120 inherited primary immunodeficiency diseases have been discovered in the past five decades, and the precise genetic defect in many of these diseases has now been identified. Increasing understanding of these molecular defects has considerably influenced both basic and translational research, and this has extended to many branches of medicine. Recent advances in both diagnosis and therapeutic modalities have allowed these defects to be identified earlier and to be more precisely defined, and they have also resulted in more promising long-term outcomes. The prospect of gene therapy continues to be included in the armamentarium of treatment considerations, because these conditions could be among the first to benefit from gene-therapy trials in humans.