Hyper IgE syndrome : a case report

Background and aims: The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent bacterial infections of the skin and lung. Methods: We report a case of a 13-year old boy from Sri-Lanka. The boy has been suffering from atopic dermatitis since first months of life, and from recurrent allergic asthma since the age of 2. Pustular lesions with a tendency toward formation of multiple abscesses appeared all from August 2011 and were always treated with antibiotic therapy. Results: In June 2012, the child was admitted to our department due to fever and abdominal pain that started 5 days prior to admission. Blood test results: PCR = 93,4 mg/L (normal value < 10 mg/L), Mycoplasma Pneumoniae serological Immunoglobulin (Ig) M positive, Ig E level = 10,428 UI/mL (normal value < 100 UI/mL). Mantoux test was negative. Chest X-ray showed a consolidation area, which looked like a pulmonary abscess. CT imaging confirmed the diagnosis. Clinical and radiological improvement was not achieved despite antibiotic treatment with ceftazidime and clarithromycin. The abscess was drained and Methicillin resistant (MRSA) Staphilococcus aureus was isolated. Considering the clinical features, IgE values and etiology of abscess, a diagnosis of Hyper-IgE syndrome was stated. Antibiotic therapy with vancomycin was started, and clinical condition improved. Identification of STAT3 mutation is still ongoing. Conclusion: complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences.