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

Haskologlu S., Dogu F., GÖLLÜ BAHADIR G., Akyuzluer S., ÇİFTCİ E., Altun D., ...More

IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, vol.19, no.6, pp.667-675, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.18502/ijaai.v19i6.4936
  • Journal Name: IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.667-675
  • Keywords: Alveolar echinococcosis, Autosomal dominant hyper immunoglobulin E syndrome, HYPER-IGE SYNDROME, IMMUNOSUPPRESSION, CELLS
  • Ankara University Affiliated: Yes

Abstract

Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (S TAT 3) 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.