38. Hyper IgE syndrome in children: Case reports and literature review
Main Article Content
Abstract
Hyper-immunoglobulin E syndromes (HIES) include compound primary immunodeficiency due to various monogenic pathologies and nonimmunological abnormalities. Depending on the autosomal dominant or recessive inheritance, HIES patients have different clinical manifestations, but they are characterized by eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities with extremely high serum IgE levels and eosinophilia. Diagnosis is still a challenge, especially in the early stages of life, it is difficult to distinguish from other diseases such as atopic dermatitis. We describe two pediatric patients diagnosed with HIES due to dominant mutations in the signaling and activator of transcription 3 (STAT3) gene and recessive mutations in the dedicator of Cytokinesis 8 (DOCK8) gene, thereby analyzing the differences in clinical features, diagnostic approaches, and genetic properties in the two groups of mutations causing HIES.
Article Details
Keywords
Atopic dermatitis, DOCK8, hyper immunoglobulin E, inborn error immunity, STAT3
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