Müller-Hermelink H K, Müller J
Pathologisches Institut, Universität Würzburg.
Verh Dtsch Ges Pathol. 1991;75:32-50.
Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g. Di George Syndrome) are still used in view of their leading clinical presentations. However, detailed analysis of individual cases and families now shows a plethora of different diseases in each category. In this review the relationship of primary immunodeficiency diseases of the B-cell system and autoimmune phenomena are discussed. The pathology of thymus in severe combined immunodeficiency is shown: central maturation defects of the T-cell system are not due to "dysplasia" of the thymus but rather to enzyme defects of the lymphatic cells. Severe alterations of the thymus may also be caused by graft versus host disease. The clarification of genetic defects of lymphoid differentiation and maturation today may lead to improved early and prenatal diagnosis as well as specific gene therapy. The success of bone marrow transplantation in many cases of primary immunodeficiency disease syndromes may be considered as a consequence of successful gene therapy.
原发性免疫缺陷综合征可被视为“自然实验”，有助于深入了解人类免疫系统的组成和功能。原发性免疫缺陷综合征的主要类别：严重联合免疫缺陷、无丙种球蛋白血症和孤立性T细胞缺陷（如迪格奥尔格综合征），鉴于其主要临床表现，目前仍在使用。然而，对个别病例和家庭的详细分析表明，每一类中都有大量不同的疾病。在这篇综述中，讨论了B细胞系统原发性免疫缺陷疾病与自身免疫现象之间的关系。展示了严重联合免疫缺陷中胸腺的病理学：T细胞系统的中枢成熟缺陷并非由于胸腺“发育异常”，而是由于淋巴细胞的酶缺陷。胸腺的严重改变也可能由移植物抗宿主病引起。如今对淋巴样分化和成熟的基因缺陷的阐明可能会改善早期和产前诊断以及特异性基因治疗。在许多原发性免疫缺陷疾病综合征病例中骨髓移植的成功可被视为成功基因治疗的结果。
