Insights into causes of rare genetic immune disorders
The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations that disrupt immune cell signalling through a protein called PI3K.
“This study tells us how signalling in the immune system needs to be tightly balanced to make an effective response to infection. Sometimes it’s turned down and you have a problem, and sometimes signalling being turned up can interfere with an immune ...













