Hitzig W H
Padiatr Grenzgeb. 1989;28(1):3-45.
The contribution of observations in congenital deficiency disorders to our understanding of normal mechanisms can hardly be overestimated, as may in particular be seen in the complex field of mechanisms aiming at maintaining the individual integrity. After a brief summary of the natural lines of defense we demonstrate a few cases with typical deficiencies, i.e. of the integuments (ciliary dyskinesia syndrome), of the phagocytes (chronic granulomatous disease = CGD), of specific immune reactions (antibody deficiency syndrome, severe combined immunodeficiency = SCID and syndromes with associated immunodeficiencies), and finally of the complement properdin system. Classification of these Primary Immunodeficiency Syndromes (= PIDS) with exceptional research potential as proposed by an expert panel of the WHO turned out to be quite useful also for the understanding of by far more frequent secondary disorders, in particular of the recently observed acquired immunodeficiency syndrome = AIDS due to an infection with the human immunodeficiency virus (= HIV). For pediatricians in industrialized countries, however, children with frequently recurring, but trivial infections are of considerable practical importance. A clear diagnostic concept is the necessary base for the proposed treatment, counselling and help for the inflicted parents.
先天性缺陷疾病中的观察结果对我们理解正常机制的贡献再怎么高估也不为过，这一点在旨在维持个体完整性的复杂机制领域尤为明显。在简要总结了自然防御防线之后，我们展示了一些典型缺陷的病例，即皮肤方面（纤毛运动障碍综合征）、吞噬细胞方面（慢性肉芽肿病=CGD）、特异性免疫反应方面（抗体缺陷综合征、严重联合免疫缺陷=SCID以及伴有相关免疫缺陷的综合征），最后是补体替代途径系统方面。世界卫生组织专家小组提出的对这些具有特殊研究潜力的原发性免疫缺陷综合征（=PIDS）进行分类，结果证明对理解远比其更常见的继发性疾病也非常有用，尤其是对最近观察到的由人类免疫缺陷病毒（=HIV）感染引起的获得性免疫缺陷综合征=艾滋病。然而，对于工业化国家的儿科医生来说，患有频繁复发但轻微感染的儿童具有相当大的实际重要性。清晰的诊断概念是为患病儿童及其父母提供建议治疗、咨询和帮助的必要基础。
