A rare primary immunodeficiency.

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Autosomal dominant hyper-IgE syndrome (AD-HIES) is a primary immunodeficiency characterized by high IgE levels, eczema, recurrent infections, and skeletal abnormalities.
• STAT3 mutations are the most common genetic cause of AD-HIES.

Observation:

• A 9-year-old girl presented with failure to thrive, chronic sinopulmonary infections, skin pustules, and unusual vulval induration.
• Clinical features included coarse facial features, extensive eczema, dental caries, hypermobile joints, and retained primary dentition.
• Despite recurrent infections, the patient lacked typical pneumonia symptoms.

Findings:

• Serum IgE levels were significantly elevated, confirming hyper-IgE syndrome.
• Vulval biopsy revealed a premalignant condition, an atypical presentation for this disorder in children.
• No STAT3 mutation was identified, suggesting a novel genetic mutation responsible for the condition.

Implications:

• This case highlights the diverse clinical spectrum of hyper-IgE syndrome, including rare manifestations like vulval premalignancy.
• The absence of STAT3 mutation underscores the need for further genetic research in primary immunodeficiencies.
• Close monitoring for malignant transformation is crucial in patients with AD-HIES and associated premalignant conditions.