期刊
CLINICAL & DEVELOPMENTAL IMMUNOLOGY
卷 13, 期 2-4, 页码 223-259出版社
HINDAWI LTD
DOI: 10.1080/17402520600800705
关键词
primary immunodeficiency disease; primary immunodeficiency; immunodeficiencies; autoimmune
类别
Since the original description of X-linked agammaglobulinemia in 1952, the number of independent primary immunodeficiency diseases (PIDs) has expanded to more than 100 entities. By definition, a PID is a genetically determined disorder resulting in enhanced susceptibility to infectious disease. Despite the heritable nature of these diseases, some PIDs are clinically manifested only after prerequisite environmental exposures but they often have associated malignant, allergic, or autoimmune manifestations. PIDs must be distinguished from secondary or acquired immunodeficiencies, which are far more common. In this review, we will place these immunodeficiencies in the context of both clinical and laboratory presentations as well as highlight the known genetic basis.
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