Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany.
German Center for Lung research (DZL), Munich, Germany.
Allergy. 2019 Sep;74(9):1691-1702. doi: 10.1111/all.13753. Epub 2019 Apr 4.
Pulmonary complications are responsible for high morbidity and mortality rates in patients with the rare immunodeficiency disorder STAT3 hyper-IgE syndrome (STAT3-HIES). The aim of this study was to expand knowledge about lung disease in STAT3-HIES.
The course of pulmonary disease, radiological and histopathological interrelations, therapeutic management, and the outcome of 14 STAT3-HIES patients were assessed.
The patients' quality of life was compromised most by pulmonary disease. All 14 patients showed first signs of lung disease at a median onset of 1.5 years of age. Lung function revealed a mixed obstructive-restrictive impairment with reduced FEV1 and FVC in 75% of the patients. The severity of lung function impairment was associated with Aspergillus fumigatus infection and prior lung surgery. Severe lung tissue damage, with reduced numbers of ATP-binding cassette sub-family A member 3 (ABCA3) positive type II pneumocytes, was observed in the histological assessment of two deceased patients. Imaging studies of all patients above 6 years of age showed severe airway and parenchyma destruction. Lung surgeries frequently led to complications, including fistula formation. Long-term antifungal and antibacterial treatment proved to be beneficial, as were inhalation therapy, chest physiotherapy, and exercise. Regular immunoglobulin replacement therapy tended to stabilize lung function.
Due to its severity, pulmonary disease in STAT3-HIES patients requires strict monitoring and intensive therapy.
肺部并发症是 STAT3 高免疫球蛋白 E 综合征（STAT3-HIES）这一罕见免疫缺陷疾病患者发病率和死亡率高的原因。本研究旨在增进对 STAT3-HIES 肺部疾病的认识。
评估了 14 例 STAT3-HIES 患者的肺部疾病病程、影像学和组织病理学的相互关系、治疗管理和转归。
肺部疾病对患者的生活质量影响最大。所有 14 例患者在中位发病年龄 1.5 岁时出现肺部疾病的最初迹象。肺功能显示混合性阻塞性/限制性损害，75%的患者存在 1 秒率（FEV1）和用力肺活量（FVC）降低。肺功能损害的严重程度与烟曲霉感染和既往肺部手术有关。两名已故患者的组织学评估显示严重的肺组织损伤，ATP 结合盒亚家族 A 成员 3（ABCA3）阳性 II 型肺泡细胞数量减少。所有 6 岁以上患者的影像学研究均显示严重的气道和实质破坏。肺部手术常导致并发症，包括瘘形成。长期抗真菌和抗菌治疗以及吸入治疗、胸部物理治疗和运动被证明是有益的。定期免疫球蛋白替代疗法有助于稳定肺功能。
由于其严重程度，STAT3-HIES 患者的肺部疾病需要严格监测和强化治疗。
