[Hyper IgE syndrome: three case reports].

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Autosomal dominant Hyper IgE syndrome (HIES-AD) is a primary immunodeficiency.
• It involves immune dysfunction, particularly in Th17 cells.
• HIES-AD is linked to connective tissue, skeletal, vascular, and neurological disorders.

Observation:

• The study describes three children (2 male, 1 female) diagnosed with HIES-AD.
• Patients presented with congenital eczema, recurrent infections (skin, ear, lung, lymph nodes).
• Elevated serum IgE (>2,000 IU/ml) and eosinophilia were noted.

Findings:

• HIES-AD requires a high index of suspicion for early diagnosis.
• Prompt management of infections is essential for patient outcomes.
• Distinguishing HIES-AD from atopic syndrome is critical due to differing clinical contexts and resolutions.

Implications:

• This study highlights the importance of recognizing HIES-AD's multifaceted presentation.
• Understanding Th17 cell alterations aids in explaining susceptibility to specific infections.
• Early intervention strategies can improve the prognosis for HIES-AD patients.