Kuis W, de Graeff-Meeder E R, Rijkers G T, Stoop J W, Zegers B J
Afd. Immunologie/Rheumatologie, Universiteitskliniek voor kinderen en jeugdigen Het Wilhelmina Kinderziekenhuis, Utrecht.
Tijdschr Kindergeneeskd. 1988 Oct;56(5):184-92.
Clinical and immunological findings of 5 patients with distinct defects in either humoral immunity or in the complement system are described. The syndromes presented comprise examples of type I dysimmunoglobulinaemia, X-linked agammaglobulinaemia (XLA), familial deficiency of complement factor C1q and a patient with a selective deficiency in the synthesis of antibodies against pneumococcal polysaccharides. The patients with a defect in humoral immunity all showed recurrent bacterial infections of the respiratory tract. The XLA-patient developed a dermatomyositis-like syndrome and ECHO-virus encephalitis. Prior to the development of a SLE-like syndrome the two siblings with C1q deficiency showed recurrent respiratory tract infections, most probably on basis of a defect in the clearance of immune complexes.
本文描述了5例体液免疫或补体系统存在明显缺陷患者的临床和免疫学发现。所呈现的综合征包括I型免疫球蛋白异常血症、X连锁无丙种球蛋白血症（XLA）、补体因子C1q家族性缺乏以及1例针对肺炎球菌多糖抗体合成选择性缺乏的患者。体液免疫缺陷患者均表现出反复的呼吸道细菌感染。XLA患者出现了皮肌炎样综合征和埃可病毒脑炎。在出现类似系统性红斑狼疮（SLE）的综合征之前，两名C1q缺乏的同胞表现出反复的呼吸道感染，很可能是由于免疫复合物清除缺陷所致。
