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

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

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 a...

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Bibliographic Details
Published in:Case reports in immunology Vol. 2020; no. 2020; pp. 1 - 9
Main Authors: Naumova, Elissaveta Jordanova, Baleva, Marta Petrova, Stoyanova, Guergana Petrova, Ivanov, Nedelcho Hristov, Yankova, Petya Stefanova, Gesheva, Nevena Todorova, Lesichkova, Spaska Stoyneva, Kandilarova, Snezhina Mihailova, Perenovska, Penka Ilieva
Format: Journal Article
Language:English
Published: Cairo, Egypt Hindawi Publishing Corporation 2020
Hindawi
Hindawi Limited
Subjects:
Abscesses
Age
Bone density
Case Report
Case reports
Dermatitis
Disease
Eosinophilia
Family medical history
Immunoglobulin E
Immunology
Job's syndrome
Mutation
Patients
Peritonitis
Pneumonia
Rare diseases
Siblings
Stat3 protein
Streptococcus infections
Teeth
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Summary: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.
Bibliography:Academic Editor: Claudio Pignata
ISSN:2090-6609
2090-6617
DOI:10.1155/2020/6694957