Genetic testing
Job Syndrome (Hyper-IgE Syndrome)
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
Job Syndrome (Hyper-IgE Syndrome)
Job`s syndrome (hyper-IgE syndrome, HIES) is a multisystem disorder characterized by eczema, skin abscesses, recurrent staphylococcal infections of the skin and lungs, pneumatocele formation, candidiasis, eosinophilia, and elevated serum levels of IgE. Nonimmunologic features of HIES include characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures after minimal trauma, and craniosynostosis. In 2007, mutations in signal transducer and activator of transcription 3 (STAT3) were shown to be a cause of HIES. STAT3 plays a key role in the signal transduction of a broad range of cytokines. After cytokine binding and Janus kinase activation, STAT3 is phosphorylated, dimerizes, and translocates to the nucleus, where it controls the transcription of its target genes. STAT3 is crucial for the IL-6–mediated regulation of TH17 cells, which are siginificant producers of IL-17 - a proinflammatorycytokine involved in the host defense of Staphylococcus aureus and Candida.