A retrospective single-center analysis of inborn errors of immunity combined with liver occupation

ZOU Liang-yan; SUN Bi-jun; YAO Qiong; WANG Wen-jie; HOU Jia; ZHOU Qin-hua; YAO Hai-li; SUN Jin-qiao; WANG Xiao-chuan

doi:10.19538/j.ek2024110608

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(9×109/L vs 12×109/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.