Genetic immunodeficiencies: both the lumpers and the splitters can claim victory.
Over the last few years, molecular approaches to analysis of genetic immunodeficiencies have made it clear that different mutations of the same gene may result in very different clinical presentations. On the other hand, a single clinical syndrome is sometimes due to mutations in a variety of independent genes. In the future, appropriate treatment, particularly gene therapy, will depend on a precise genetic diagnosis.
Conley
M E
ME
University of Tennessee, Memphis.
D000361:Agammaglobulinemia / Q000235:genetics; D001778:Blood Coagulation Disorders / Q000235:genetics; D001792:Blood Platelets; D008040:Genetic Linkage; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000235:genetics; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008214:Lymphocytes; D014960:X Chromosome
D006680:HLA Antigens