伴有多系统肉芽肿的家族性联合细胞和体液免疫缺陷。

Perks W H, Petheram I S

Thorax. 1978 Feb;33(1):101-5. doi: 10.1136/thx.33.1.101.

A brother and sister presented with recurrent respiratory infections. Investigations showed combined cellular and humoral immune defects and non-caseating granulomata in lungs, liver, lymph nodes, and skin. Despite antimycobacterial chemotherapy and corticosteroids in the brother and the additional treatment of human immunoglobulin injections in the sister both patients deteriorated with pulmonary and hepatic involvement.

一名兄妹均出现反复呼吸道感染。检查显示存在细胞免疫和体液免疫联合缺陷，且在肺、肝、淋巴结和皮肤中出现非干酪样肉芽肿。尽管对哥哥进行了抗分枝杆菌化疗和使用皮质类固醇，对妹妹还额外进行了人免疫球蛋白注射治疗，但两名患者均因肺部和肝脏受累而病情恶化。