Activated PI3K delta syndrome
Activated PI3K delta syndrome (pronounced as "activated p-i-three-k delta syndrome"), also known as APDS or p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is a rare genetic disorder that affects the immune system.
Etymology
The term "Activated PI3K delta syndrome" is derived from the name of the gene that is mutated in the condition, PIK3CD, which produces an enzyme called phosphatidylinositol 3-kinase delta (PI3K delta). The "activated" part of the name refers to the fact that the mutation causes the PI3K delta enzyme to be constantly active, leading to the symptoms of the syndrome.
Symptoms
People with Activated PI3K delta syndrome typically have immunodeficiency, which makes them more susceptible to infections. They may also have lymphadenopathy (swollen lymph nodes), hepatosplenomegaly (enlarged liver and spleen), and autoimmunity (where the immune system attacks the body's own cells). Other symptoms can include respiratory tract infections, chronic diarrhea, and skin infections.
Causes
Activated PI3K delta syndrome is caused by mutations in the PIK3CD gene. This gene provides instructions for making the p110 delta protein, which is part of the PI3K delta enzyme. The PI3K delta enzyme is involved in several important processes in the body, including cell growth and division, and the activation of T cells (a type of white blood cell that plays a key role in the immune response).
Diagnosis
Diagnosis of Activated PI3K delta syndrome is based on the clinical symptoms, and confirmed by genetic testing to identify mutations in the PIK3CD gene.
Treatment
Treatment for Activated PI3K delta syndrome is aimed at managing the symptoms and preventing infections. This can include antibiotic therapy, immunoglobulin therapy, and in some cases, hematopoietic stem cell transplantation.
See also
External links
- Medical encyclopedia article on Activated PI3K delta syndrome
- Wikipedia's article - Activated PI3K delta syndrome
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski