《医学遗传学 Medical Genetics》课程授课教案（PPT课件讲稿）第十五章 免疫缺陷（二）

Medical genetics 2. Etiology Immunodeficiency has no common cause, although a single gene defect is often implicated

Medical Genetics Immunodeficiency has no common cause, although a single gene defect is often implicated

Medical genetics The defect can lead to a missing enzyme(eg, adenosine deaminase deficiency), a missing protein(eg complement component deficiencies) or developmental arrest at a specific differential stage(eg, pre-B-cell arrest in X-linked agammaglobulinemia)

Medical Genetics The defect can lead to a missing enzyme (eg, adenosine deaminase deficiency), a missing protein (eg, complement component deficiencies), or developmental arrest at a specific differential stage (eg, pre-B-cell arrest in X-linked agammaglobulinemia)

Medical genetics Chromosome locations of the defective genes have been identified for many of the primary immunodeficiencies

Medical Genetics Chromosome locations of the defective genes have been identified for many of the primary immunodeficiencies