Learn About Activated PI3K Delta Syndrome (APDS)
Activated PI3K-delta syndrome (also known as APDS) 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. The severity of activated PI3K-delta syndrome varies widely. Some people may have multiple, severe infections while others show mild symptoms to none at all.
Activated PI3K-delta syndrome is caused by variants (also called mutations) in the PIK3CD gene and the PIK3R1 gene. Activated PI3K-delta syndrome type 1 is caused by variants in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110δ). Activated PI3K-delta syndrome type 2 is caused by variants in the PIK3R1 gene. This gene provides instructions for making slightly different versions of another protein; the most common version is called p85 alpha (p85α).
Activated PI3K-delta syndrome is considered a rare disorder, but its exact prevalence is unknown.
Activated PI3K-delta syndrome 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 and is rated as an Elite provider by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). Their top areas of expertise are Primary Immunodeficiency (PID), Activated PI3K Delta Syndrome (APDS), X-Linked Severe Combined Immunodeficiency, and Autosomal Dominant Hyper IgE Syndrome.
Tanya Coulter practices in Belfast, United Kingdom. Coulter and is rated as an Elite expert by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). Her top areas of expertise are Activated PI3K Delta Syndrome (APDS), Lymphoid Hyperplasia, Primary Immunodeficiency (PID), and Lymphofollicular Hyperplasia.
Felipe Suarez practices in Paris, France. Suarez and is rated as a Distinguished expert by MediFind in the treatment of Activated PI3K Delta Syndrome (APDS). His top areas of expertise are Chronic Granulomatous Disease, Ataxia-Telangiectasia, Primary Immunodeficiency (PID), Bone Marrow Transplant, and Splenectomy.
Published Date: August 16, 2023
Published By: National Institutes of Health