| Autor: |
Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Frontiers in Immunology, Vol 10 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1664-3224 |
| DOI: |
10.3389/fimmu.2019.00077 |
| Popis: |
Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, 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 PIK3R1 and review the mechanisms underlying susceptibility to severe Toxoplasma gondii infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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