AI Article Synopsis
- Phosphoinositide 3-kinase (PI3K) is crucial for lymphocyte function, and mutations in its p110δ and p85α subunits lead to heightened activity and immune issues.
- The text discusses unique cases of a mother and child both suffering from severe toxoplasmosis due to a shared mutation affecting PI3K.
- It examines how this mutation and similar ones contribute to an increased risk of severe infections in activated PI3Kδ syndrome (APDS) and other primary immunodeficiencies.
Article Abstract
Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in and , encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysregulation. We describe here the first cases of disseminated and congenital toxoplasmosis in a mother and child who share a pathogenic mutation in and review the mechanisms underlying susceptibility to severe infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413717 | PMC |
| http://dx.doi.org/10.3389/fimmu.2019.00077 | DOI Listing |
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