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.
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.
The prevalence of activated PI3K-delta syndrome is unknown.
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.
Gulbu Uzel is an Allergy and Immunologist in Lansdowne, Virginia. Dr. Uzel has been practicing medicine for over 32 years and is rated as an Advanced doctor by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Primary Immunodeficiency (PID), X-Linked Severe Combined Immunodeficiency, Hyper IGE Syndrome, and Autosomal Dominant Hyper IgE Syndrome.
Henry Shoenthal is a Family Medicine doctor in New Paris, Pennsylvania. Dr. Shoenthal has been practicing medicine for over 51 years and is rated as an Advanced doctor by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). He is also highly rated in 92 other conditions, according to our data. His top areas of expertise are Coronary Heart Disease, Bronchitis, Diabetic Nephropathy, and Eosinophilic Enteropathy. Dr. Shoenthal is currently accepting new patients.
Marion Kowalewski is an Internal Medicine doctor in Nottingham, Maryland. Dr. Kowalewski has been practicing medicine for over 48 years and is rated as an Advanced doctor by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Hyperlipidemia Type 3, Activated PI3K Delta Syndrome (APDS), High Cholesterol, and Tracheitis. Dr. Kowalewski is currently accepting new patients.
Published Date: July 01, 2014Published By: National Institutes of Health
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.