Pulmonary Features of Hyperimmunoglobulin E (Job's)syndrome

Min, Byoung Ju; Shin, Jea Seung; Lee, In Sung; Shin, Young Kyoo

doi:10.4046/trd.2002.52.6.651

Cited by 1 publication

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“…In the Korean literature, HIES or Job syndrome has only been reported on the basis of clinical manifestations so far [8][9][10][11][12][13][14][15] . On physical examination, her body gauges were normal, but a broad round-shaped nose and oral thrush was found.…”

Section: Introductionmentioning

confidence: 99%

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene

et al. 2010

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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/&micro;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&gt;T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis

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Section: Introductionmentioning

confidence: 99%