Puck J M
JAMA. 1997 Dec 10;278(22):1835-41.
Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement in quality of life. Second, appreciation of the genetic nature of a host defense defect makes possible family counseling and carrier and prenatal diagnosis. Finally, the large and growing list of human genetic defects in immune pathways provides an important tool for understanding human immunoregulation. Many inherited immunodeficiency diseases have had their genetic cause proven with the discovery of their disease genes within the past 5 years. These diseases provide a framework into which additional diseases and disease gene discoveries can be added as the rapid progress in molecular immunology and genetics continues.
原发性免疫缺陷病较为罕见，但因其三个原因而显得重要。其一，高度的怀疑指数和及时的诊断能够带来挽救生命的治疗或显著改善生活质量。其二，认识到宿主防御缺陷的遗传本质使得进行家族咨询以及携带者和产前诊断成为可能。最后，免疫途径中人类遗传缺陷的种类繁多且不断增加，为理解人类免疫调节提供了重要工具。在过去5年里，随着许多疾病基因的发现，许多遗传性免疫缺陷病的遗传病因已得到证实。随着分子免疫学和遗传学的迅速发展，这些疾病提供了一个框架，可在其中添加更多的疾病和疾病基因发现。
