• Pediatric Infection and Vaccine
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• v.10 no.1
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• pp.127-131
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• 2003

Hyperimmunoglobulin E syndrome(HIES) is a primary immunodeficiency characterized by severe recurrent soft-tissue infections, pneumonias, pruritic dermatitis and markedly elevated serum IgE levels. Pneumatocele and empyema develop as result of recurrent pneumonias. It is inherited in an autosomal dominant fashion, with variable expressivity. We experienced the case of a 10 month old girl with hyper IgE syndrome. Patient was admitted for local ulceration and muscle soreness at the site of BCG inoculation. The diagnosis of hyper IgE syndrome was made because she had a coarse facial appearance, pruritic dermatitis, pneumatocele and markedly elevated serum IgE level with a past history of frequent skin abscess and pneumonia.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.592-597
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• 2010

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.