Abstract: Objective    To analyze the clinical characteristics，treatment，and prognosis of inborn errors of immunity （IEI） combined with liver occupation，and to improve the diagnosis and management of this disease. Methods    IEI patients who were hospitalized in the Department of Allergy and Clinical Immunology of the Children's Hospital of Fudan University and whose abdominal imaging suggested hepatic occupation were included. The clinical data of the patients were analyzed and they were grouped by prognosis for comparison. Results    A total of 19 children with IEI combined with liver occupation were admitted to the hospital. The prevalence of IEI children with liver occupation was 2.8%（19/687），the median time of onset of disease was 2 months of age，and the age offindingliver occupation was 12 months of age. Elevated CRP level （94.7%，18/19），anemia （78.9%，15/19），fever （57.9%，11/19），and hypoalbuminemia （31.6%，6/19） were the main abnormalities. Detection rate of hepatic occupation on ultrasound was lower than that on CT （63% vs 100%）. Hepatic occupation was with a maximum diameter of 19 mm （10 mm-50 mm） and multiple occupation （14/19）. The classifications of liver occupations：liver abscess （6/19），hepatic tuberculosis （4/19），hepatic EBV infection （2/19），hepatic fungal infection （1/19），hepatic hemangioma （2/19），and unknown nature （4/19）. Infectious lesions accounted for 68.4% （13/19）. IEI disease categories included chronic granulomatous disease （8/19），severe combined immunodeficiency disease （5/19），susceptible disease to Mendelian mycobacteria （3/19），activated phosphatidylinositol 3-kinase delta syndrome （1/19），hyper IgE syndrome （1/19） and combined immunodeficiency disease （1/19）. At a mean follow-up of 7 months，16 patients completed the follow-up （7 had good prognosis and 9 had poor prognosis）. The mean duration of hospitalization was 39 days. The levels of CRP （19 vs. 57 mg·/L，P=0.004） and white blood cell counts （9x109/L vs 12x109/L，P=0.04） were significantly improved after 4 weeks of treatment. Conclusion    IEI combined with liver occupation is rare，and infection is the main cause. Liver abscess and hepatic tuberculosis account for the majority of cases，with a long duration of anti-infection treatment. Joint participation of physicians and surgeons is needed in therapeutic decision-making when necessary.

Key words: primary immunodeficiency disease, liver abscess, hepatic tuberculosis, Epstein-Barr virus infection

摘要： 目的    分析出生免疫缺陷（IEI）合并肝占位病变患儿的病因临床特征、治疗及预后，提高对IEI合并肝占位的诊治水平。方法    研究对象为2018年1月1日至2023年1月31日在复旦大学附属儿科医院临床免疫与过敏科住院确诊为IEI且腹部影像提示肝脏占位的患儿19例，分析IEI合并肝占位患儿的临床资料并进行分析。结果    共收治19例IEI合并肝占位患儿，该中心IEI患儿中合并肝占位病变的比例为2.8%（19/687），中位起病年龄为2月龄，发现肝占位中位年龄为12月龄，初诊时主要异常表现为C反应蛋白（CRP）升高（94.7%，18/19）、贫血（78.9%，15/19）、发热（57.9%，11/19）和低白蛋白血症（31.6%，6/19）。超声肝占位检出率低于CT检查（63% vs 100%），肝占位最长径19mm，多发占位为主（14/19）。肝脏占位性质分类：肝脓肿（6/19）、肝结核（4/19）、人类疱疹病毒（EB）感染（2/19）、肝真菌感染（1/19）、肝血管瘤（2/19）和性质不明（4/19）。感染性病灶占68.4%（13/19）。涵盖IEI疾病种类：慢性肉芽肿病（8/19）、重症联合免疫缺陷病（5/19）、孟德尔遗传分枝杆菌易感性疾病（3/19）、活化磷酸肌醇3-激酶delta综合征（1/19）、高IgE综合征（1/19）和联合免疫缺陷病（1/19）。平均随访7个月，16例患儿完成随访，预后好转7例，预后不良9例。19例患儿平均住院时间为39 d，治疗第4周和病初相比CRP水平（19 mg/L vs 57 mg/L，P=0.004）和白细胞计数（9×109/L vs 12×109/L，P=0.04）差异有统计学意义。结论    IEI合并肝占位病变少见，肝占位常见病因为感染性病灶，其中肝脓肿和肝结核占多数，抗感染治疗时间长，必要时需内外科医生共同参与治疗决策。

关键词: 原发性免疫缺陷病, 肝脓肿, 肝结核, 人类疱疹病毒感染