hyper IgE syndrome, a horrable disease to be born with.

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Autosomal dominant hyper IgE syndrome

In 70% of these patients, the AD-HIES phenotype is associated with heterozygous

mutations of the signal transducer and activator of transcription 3 gene (STAT3;

17q21). STAT3 plays a key role in the signal transduction of a broad range of

cytokines and STAT3 is crucial for the IL-6-mediated regulation of Th17 cells,

which are important for the control of infections caused by fungi and

extracellular bacteria. The etiology in the remaining 30% of patients remains

unknown

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB & Expert=2314