An Unexpected Infection in Loss-of-Function Mutations in STAT3: Malignant Alveolar Echinococcosis in Liver

Iran J Allergy Asthma Immunol. 2020 Dec 19;19(6):667-675. doi: 10.18502/ijaai.v19i6.4936.ABSTRACTLoss-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.PMID:33463136 | DOI:10.18502/ijaai.v19i6.4936

Source: Iranian Journal of Allergy, Asthma and Immunology - January 19, 2021 Category: Allergy & Immunology Authors: Sule Haskologlu Figen Dogu Gulnur Gollu Bahad ır Setenay Akyuzluer Ergin Ciftci Demet Altun Sevgi Keles Meltem Kologlu Aydan Ikinciogullari Source Type: research