On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up.

Autor: Kandilarova SM; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Lesichkova SS; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Gesheva NT; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Yankova PS; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Ivanov NH; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Stoyanova GP; Department of Pediatric Diseases, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria., Perenovska PI; Department of Pediatric Diseases, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria., Baleva MP; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria., Naumova EJ; Department of Clinical Immunology with Stem Cell Bank, University Hospital 'Alexandrovska', PID National Expert Center, Medical University, Sofia, Bulgaria.
Jazyk: angličtina
Zdroj: Case reports in immunology [Case Reports Immunol] 2020 Dec 02; Vol. 2020, pp. 6694957. Date of Electronic Publication: 2020 Dec 02 (Print Publication: 2020).
DOI: 10.1155/2020/6694957
Abstrakt: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease described in 1966. It is characterized by severe dermatitis, a peculiar face, frequent infections, extremely high levels of serum IgE and eosinophilia, all resulting from a defect in the STAT3 gene. A variety of mutations in the SH2 and DNA-binding domain have been described, and several studies have searched for associations between the severity of the clinical symptoms, laboratory findings, and the type of genetic alteration. We present two children with AD-HIES-a girl with the most common STAT3 mutation (R382W) and a boy with a rare variant (G617E) in the same gene, previously reported in only one other patient. Herein, we discuss the clinical and immunological findings in our patients, focusing on their importance on disease course and management.
Competing Interests: The authors declare that there are no conflicts of interest.
(Copyright © 2020 Snezhina Mihailova Kandilarova et al.)
Databáze: MEDLINE
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