Hyper IgE Syndrome

Deniz EYİCEa , Semra DEMİRa
aİstanbul University İstanbul Faculty of Medicine, Department of Internal Medicine, Division of Immunology and Allergy Diseases, İstanbul, Türkiye

Eyice D, Demir S. Hyper IgE syndrome. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.58-66.

ABSTRACT
Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder with high Ig E serum levels, eczematous dermatitis, and recurrent skin and pulmonary infections with the characteristic facial changes. It consists of a group of disease that include elevated IgE and similar clinicopathologic features. Most cases of HIES are sporadic but some hereditary cases of HIES were reported with autosomal dominant (AD) or autosomal recessive (AR) inheritance. Most patients with AD-HIES have a defect in STAT3 gene. There are other causative genes; DOCK8, PGM3, ZNF341, IL6ST, IL6R, CARD11, SPINK5. An elevated serum IgE level and peripheral eosinophilia are the most common laboratory findings in patients with HIES. Early diagnosis, antimicrobial prophylaxis to prevent the lung and skin infections, skin care and aggressive treatment of infections are the basis of treatment. Hematopoietic stem cell transplantation can be a choice of treatment in selected patients.

Keywords: DOCK8 protein, human; STAT3 protein, human

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