Hyper-Immunoglobulin E (IgE) Syndrome: A Diagnostic Dilemma

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Hyper-immunoglobulin E syndrome (HIES) is a primary immunodeficiency characterized by eczema, recurrent infections, and extremely high serum IgE levels.
• HIES often involves skeletal and other non-immune system abnormalities.
• Genetic mutations are typically identified in HIES patients.

Observation:

• A six-year-old boy presented with severe atopic dermatitis, food allergies, asthma, and recurrent sinopulmonary infections.
• He developed acute left ankle pain, fever, and inability to bear weight, with physical findings of ecchymosis, swelling, and tenderness.
• Laboratory results showed leukocytosis and markedly elevated IgE levels, with normal other immunoglobulin levels.

Findings:

• Despite the clinical presentation suggestive of HIES, the genetic panel for HIES was negative.
• MRI confirmed osteomyelitis of the left ankle, which responded to antibiotic treatment.
• This case underscores the complexity of diagnosing HIES, especially when genetic testing is unrevealing.

Implications:

• Clinicians must consider HIES in patients with severe atopic dermatitis, recurrent infections, and elevated IgE, even without a positive genetic test.
• Diagnostic challenges in HIES necessitate a comprehensive evaluation integrating clinical, laboratory, and imaging findings.
• This case highlights the importance of considering alternative diagnoses or atypical presentations of HIES.