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Molecular interplay explains many immunodeficiencies
Date:11/11/2013

ee these effects in patients with X-linked severe combined immunodeficiency, whose impaired response to IL-21 causes severe antibody deficiency."

"Patients with mutations in the STAT3 gene develop Hyper IgE Syndrome, another rare immunodeficiency that manifests as compromised antibody production and greatly depleted immune defences."

Immunodeficiencies arising from mutations in single genes give scientists a unique opportunity to understand B cell signaling, and reveal potential targets for modulating B cell responses in immunodeficiency and autoimmunity.

The current study arose from analysing global gene expression in B cells from healthy people and people with STAT3 deficiency which immediately highlighted genes that were poorly expressed in disease. The Tangye lab plans to investigate other genes that impact the function of B cells.


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Contact: Alison Heather
a.heather@garvan.org.au
61-292-958-128
Garvan Institute of Medical Research
Source:Eurekalert

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