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Activated PI3K delta syndrome

Medical condition From Wikipedia, the free encyclopedia

Activated PI3K delta syndrome
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Activated PI3K delta syndrome (APDS) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene.[7][8][2]

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Symptoms and signs

The signs and symptoms of activated PI3K Delta Syndrome are consistent with the following:[1]

Cause

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]

Mechanism

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PI3kinase

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]

Diagnosis

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]

Treatment

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Amoxicillin(antibiotic)

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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References

Further reading

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