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On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up
Joint Authors
Kandilarova, Snezhina Mihailova
Lesichkova, Spaska Stoyneva
Gesheva, Nevena Todorova
Yankova, Petya Stefanova
Ivanov, Nedelcho Hristov
Stoyanova, Guergana Petrova
Perenovska, Penka Ilieva
Baleva, Marta Petrova
Naumova, Elissaveta Jordanova
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-03
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kandilarova, Snezhina Mihailova& Lesichkova, Spaska Stoyneva& Gesheva, Nevena Todorova& Yankova, Petya Stefanova& Ivanov, Nedelcho Hristov& Stoyanova, Guergana Petrova…[et al.]. 2020. On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up. Case Reports in Immunology،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1148006
Modern Language Association (MLA)
Kandilarova, Snezhina Mihailova…[et al.]. On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up. Case Reports in Immunology No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1148006
American Medical Association (AMA)
Kandilarova, Snezhina Mihailova& Lesichkova, Spaska Stoyneva& Gesheva, Nevena Todorova& Yankova, Petya Stefanova& Ivanov, Nedelcho Hristov& Stoyanova, Guergana Petrova…[et al.]. On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up. Case Reports in Immunology. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1148006
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148006