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Hyperimmunoglobulin E syndrome, an immune disorder characterized by high levels of serum IgE.
Hyperimmunoglobulin E syndrome (also known as Job's Syndrome)
Loss-of-function mutations in the STAT3 gene result in Hyperimmunoglobulin E syndrome, associated with recurrent infections as well as disordered bone and tooth development.
Hyperimmunoglobulin E syndrome (HIES), also called Job's syndrome and Buckley syndrome, is a heterogeneous group of immune disorders.
A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E.
This variant of Hyperimmunoglobulin E syndrome (HIES) was first described in 2004 and was now found to have a genetic mutation in the DOCK8 gene.
Atopic individuals can have up to 10 times the normal level of IgE in their blood (as do sufferers of hyper-IgE syndrome).
It's the old JOB syndrome all over again.
AR-HIES HIES hyperimmunoglobulin E recurrent infection syndrome Job syndrome, autosomal recessive HIE syndrome None Autosomal recessive hyper IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder.