an unexpected infection in loss-of-function mutations in stat3: malignant alveolar echinococcosis in liver

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 undertreated. 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.