Granulomatous inflammation of the lung can be a manifestation of different conditions and can be caused by endogenous inflammation or external triggers. A multitude of different genetic mutations can either predispose patients to infections with granuloma-forming pathogens or cause autoinflammatory disorders, both leading to the phenotype of pulmonary granulomatosis. Based on a detailed patient history, physical examination and a diagnostic approach including laboratory workup, pulmonary function tests (PFTs), computed tomography (CT) scans, bronchoscopy with bronchoalveolar lavage (BAL), lung biopsies and specialised microbiological and immunological diagnostics, a correct diagnosis of an underlying cause of pulmonary granulomatosis of genetic origin can be made and appropriate therapy can be initiated. Depending on the underlying disorder, treatment approaches can include antimicrobial therapy, immunosuppression and even haematopoietic stem cell transplantation (HSCT). Patients with immunodeficiencies and autoinflammatory conditions are at the highest risk of developing pulmonary granulomatosis of genetic origin. Here we provide a review on these disorders and discuss pathogenesis, clinical presentation, diagnostic approach and treatment.

肺部肉芽肿性炎症可能是不同情况的表现，可能由内源性炎症或外部触发因素引起。许多不同的基因突变可能使患者容易感染肉芽肿形成病原体或引起自身炎症性疾病，两者都会导致肺肉芽肿病的表型。基于详细的病史、体格检查和诊断方法，包括实验室检查、肺功能测试 (PFT)、计算机断层扫描 (CT) 扫描、支气管镜检查和支气管肺泡灌洗 (BAL)、肺活检和专门的微生物学和免疫学诊断，正确的可以诊断遗传性肺肉芽肿的根本原因，并可以开始适当的治疗。根据潜在的疾病，治疗方法可包括抗菌疗法、免疫抑制甚至造血干细胞移植 (HSCT)。患有免疫缺陷和自身炎症的患者患遗传性肺肉芽肿的风险最高。在这里，我们对这些疾病进行综述，并讨论发病机制、临床表现、诊断方法和治疗。