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

  • Sule Haskologlu ORCID GS PM Mail Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Ankara University, Ankara, Turkey
  • Figen Dogu ORCID GS PM Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Ankara University, Ankara, Turkey
  • Gulnur Gollu Bahadır ORCID GS PM Department of Pediatric Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey
  • Setenay Akyuzluer ORCID GS PM Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Ankara University, Ankara, Turkey
  • Ergin Ciftci ORCID GS PM Department of Pediatrics, Faculty of Medicine, Division of Infectious Diseases, Ankara University, Ankara Turkey, Ankara, Turkey
  • Demet Altun ORCID GS PM Department of Pediatrics, Faculty of Medicine, Ufuk University, Ankara, Turkey
  • Sevgi Keles ORCID GS PM Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Necmettin Erbakan University, Konya, Turkey
  • Meltem Kologlu ORCID GS PM Department of Pediatric Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey
  • Aydan Ikinciogullari ORCID GS PM Department of Pediatrics, Faculty of Medicine, Division of Immunology and Allergy, Ankara University, Ankara, Turkey
Keywords:
Alveolar echinococcosis, Autosomal dominant hyper immunoglobulin E syndrome

Abstract

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 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.

References

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Published
2020-12-19
How to Cite
1.
Haskologlu S, Dogu F, Gollu Bahadır G, Akyuzluer S, Ciftci E, Altun D, Keles S, Kologlu M, Ikinciogullari A. An Unexpected Infection in Loss-of-Function Mutations in STAT3: Malignant Alveolar Echinococcosis in Liver. Iran J Allergy Asthma Immunol. 19(6):667-675.
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Case Report(s)