期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 35, 期 8, 页码 739-744出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-015-0205-x
关键词
Primary immunodeficiency; IRAK-4; hyper IgE syndrome; next-generation sequencing
类别
Autosomal recessive IL-1R-associated kinase 4 (IRAK-4) deficiency is a rare cause of recurrent pyogenic infections with limited inflammatory responses. We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels. In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and circulating follicular helper T cell subsets. A panel-based sequencing approach led to the identification of a homozygous IRAK4 stop mutation (c.877C > T, p.Gln293*).
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