Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Ankara University, Ankara, Turkey.
Department of Pediatric Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey.
Iran J Allergy Asthma Immunol. 2020 Dec 19;19(6):667-675. doi: 10.18502/ijaai.v19i6.4936.
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) gene causes autosomal dominant hyper immunoglobulin E syndrome (AD-HIES or Job's Syndrome), a rare and complex primary immunodeficiency (PID) syndrome characterized by increased levels of IgE (>2000 IU/mL), eosinophilia, recurrent staphylococcal skin abscesses, eczema, recurrent pneumonia, skeletal and connective tissue abnormalities. Although bacterial and fungal infections are common in AD-HIES, susceptibility to parasitic infections has not been reported. Alveolar echinococcosis (AE), a zoonosis caused by the growth of the Echinococcus multilocularis (EM) metacestode, mimics slow-growing liver cancer. The mortality rate of AE is very high when it is diagnosed late or under-treated. Here, we report a 14-year-old boy with AE infections of the liver and the lung resulting in liver failure and diagnosed as STAT3-LOF. To our knowledge, the association between these two conditions has not been reported in the literature before.
信号转导子和转录激活子 3（STAT3）基因的功能丧失（LOF）突变导致常染色体显性高免疫球蛋白 E 综合征（AD-HIES 或 Job 综合征），这是一种罕见且复杂的原发性免疫缺陷（PID）综合征，其特征是 IgE 水平升高（>2000IU/mL）、嗜酸性粒细胞增多、复发性葡萄球菌皮肤脓肿、湿疹、复发性肺炎、骨骼和结缔组织异常。虽然 AD-HIES 中常见细菌和真菌感染，但尚未报道对寄生虫感染的易感性。细粒棘球蚴病（AE）是一种由多房棘球蚴（EM）包虫蚴生长引起的人畜共患病，其表现类似于生长缓慢的肝癌。如果诊断较晚或治疗不当，AE 的死亡率非常高。在这里，我们报告了一例 14 岁男孩患有肝和肺的 AE 感染导致肝功能衰竭，并被诊断为 STAT3-LOF。据我们所知，这两种情况之间的关联以前在文献中没有报道过。
