Hyper-immunoglobulin E syndrome (HIES) is a complex primary immunodeficiency associated with inflammation, high levels of serum IgE, multiple infections and skeletal abnormalities. In this paper, the disease is linked to germline, heterozygous in-frame mutations in the DNA binding domain of the transcription activator STAT3 in eight of fifteen unrelated patients.
- Yoshiyuki Minegishi
- Masako Saito
- Hajime Karasuyama
