Learn About Activated PI3K Delta Syndrome (APDS)

What is the definition of Activated PI3K Delta Syndrome (APDS)?

Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections.

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What are the causes of Activated PI3K Delta Syndrome (APDS)?

Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110δ). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing the p110δ subunit, called PI3K-delta, is specifically found in white blood cells, including B cells and T cells. PI3K-delta signaling is involved in the growth and division (proliferation) of white blood cells, and it helps direct B cells and T cells to mature (differentiate) into different types, each of which has a distinct function in the immune system.

How prevalent is Activated PI3K Delta Syndrome (APDS)?

The prevalence of activated PI3K-delta syndrome is unknown.

Is Activated PI3K Delta Syndrome (APDS) an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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Who are the sources who wrote this article ?

Published Date: July 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Activated PI3K Delta Syndrome (APDS)?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.