Chen J H, Bao Y M, Li Z C, Ma H L, Wang W J, Zheng Y J
Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518038, China.
Zhonghua Er Ke Za Zhi. 2020 Mar 2;58(3):228-232. doi: 10.3760/cma.j.issn.0578-1310.2020.03.013.
To summarize the clinical features of immunodeficiency diseases with interstitial lung disease (ILD) as major clinical manifestations and to improve understanding etiology of ILD. The clinical features and clinical clues for diagnosis of six cases with immunodeficiency presented with ILD in Shenzhen Children's Hospital from January 2014 to December 2016 were retrospectively analyzed. The patients' age ranged from 3 months to 5 years and 9 months, 5 cases were male. All cases had cough and tachypnea, 3 cases had lung infection and respiratory failure, 2 cases had chronic hypoxia and one had clubbing. Three cases had skin rashes; 5 cases had failure to thrive. Chest CT scan showed diffuse ground glass opacity in all the 6 cases, and 2 cases had cystic changes and one had "crazy-paving" pattern. Five patients were suspected to have surfactant dysfunction and genetic testing was performed before diagnosis of immunodeficiency, of which the results were negative. With human immunodeficiency virus antibody test or immunologic laboratory testing and/or immune genetic panel, acquired immune deficiency syndrome was confirmed in one case, hyper-IgM syndrome was confirmed in two cases and hyper-IgE syndrome in one case, Wiskott-Aldrich syndrome in one and STAT3 gain of function genetic mutation in another. All cases had clinical clues indicative of underlying immunocompromise. The clinical features of immunodeficiency diseases with ILD are cough, tachypnea or hypoxia, respiratory failure with infection, diffuse ground glass opacity in Chest CT imaging. With thorough medical history and immunology screening, there would be clinical clues indicative of underlying immunocompromise. Screening for immunodeficiency disease should be emphasized in the differential diagnosis of ILD, otherwise it may lead to misdiagnosis or unnecessary testing.
总结以间质性肺疾病（ILD）为主要临床表现的免疫缺陷疾病的临床特征，提高对ILD病因的认识。回顾性分析2014年1月至2016年12月在深圳市儿童医院就诊的6例以ILD为表现的免疫缺陷患者的临床特征及诊断线索。患者年龄3个月至5岁9个月，男性5例。所有病例均有咳嗽、呼吸急促，3例有肺部感染及呼吸衰竭，2例有慢性缺氧，1例有杵状指。3例有皮疹；5例生长发育迟缓。胸部CT扫描显示6例均有弥漫性磨玻璃影，2例有囊性改变，1例有“铺路石”样表现。5例怀疑有表面活性物质功能障碍，在诊断免疫缺陷前进行了基因检测，结果均为阴性。通过人类免疫缺陷病毒抗体检测或免疫实验室检测和/或免疫基因检测，确诊1例获得性免疫缺陷综合征，2例高IgM综合征，1例高IgE综合征，1例维斯科特-奥尔德里奇综合征，另1例为信号转导和转录激活因子3功能获得性基因突变。所有病例均有提示潜在免疫功能低下的临床线索。以ILD为表现的免疫缺陷疾病的临床特征为咳嗽、呼吸急促或缺氧、感染性呼吸衰竭、胸部CT影像显示弥漫性磨玻璃影。通过详细的病史和免疫学筛查，会有提示潜在免疫功能低下的临床线索。在ILD的鉴别诊断中应强调免疫缺陷疾病的筛查，否则可能导致误诊或不必要的检查。
