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Medical condition From Wikipedia, the free encyclopedia
Activated PI3K delta syndrome (APDS) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene.[7][8][2]
Activated PI3K delta syndrome | |
---|---|
Other names | immunodeficiency 14, p110δ-activating mutation causing senescent T cells, PASLI |
Activated PI3K Delta Syndrome is autosomal dominant | |
Symptoms | Immunodeficiency, Lymphadenopathy[1] |
Causes | Mutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform[2][3] |
Diagnostic method | Genetic testing[4] |
Treatment | Antiviral therapy[5][6] |
The signs and symptoms of activated PI3K Delta Syndrome are consistent with the following:[1]
In terms of genetics, activated PI3K Delta Syndrome is autosomal dominant, a mutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform is the reason for this condition (located at chromosome 1p36.) [2][3]
The pathophysiology of activated PI3K delta syndrome has several aspects.[2] The normal function has P110δ (PI3K) involved in immune system regulation.[9]
P110δ effect is not limited to the immune system; P110δ has a presence in transformed epithelial cells and cell adhesion molecules (airway inflammation), and research has been done on the possibility of P110δ in the nervous system.[10]
Activated PI3K delta syndrome effect indicates affected individuals are likely to have activation-induced cell death.[2] Normally, PI3K-delta signaling assists B cells and T cells to mature; however, overactive PI3K-delta has an effect on the B and T cell differentiation (the process by which cells eventually are different from one another[11]).
Consequently, there is an inability to confront an infection, as well as early cell death. Furthermore, overproduction of said signal can cause lymphadenopathy (which is an enlargement of lymph nodes[12]) due to excess white blood cells.[7]
In order to ascertain if an individual has activated PI3K delta syndrome, usually one finds atypical levels of immunoglobulins. Methods to determine the condition are the following:[4]
Infections for this condition, are treated or prevented in the following general ways:[5][6]
Leniolisib (Joenja) was approved for medical use in the United States in March 2023.[13][14][15] It is the first approved drug in the US for activated PI3K delta syndrome.[13]
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