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Find out about Activated Phosphoinositide-3 Kinase (PI3K) Delta Syndrome

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Activated PI3K Delta Syndrome, known as APDS (previously known as PASLI* Disease) is a rare primary immunodeficiency (PI) that was first discovered in 2013.¹ APDS is caused by genetic variants in either one of two identified genes known as PIK3CD or PIK3R1, which are vital to the normal function and differentiation of immune cells in the body.²

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References

* PASLI – p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.

1. Angulo I, Vadas O, Garçon F, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871. doi:10.1126/science.1243292

2. Singh A, Joshi V, Jindal AK, Mathew B, Rawat A. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis. 2019;7(1):67-74. Published 2019 Oct 14. doi:10.1016/j.gendis.2019.09.015