Article
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae.
Disease models & mechanisms - 1 Mar 2023
Elworthy Stone, Rutherford Holly A, Prajsnar Tomasz K, Hamilton Noémie M, Vogt Katja, Renshaw Stephen A, Condliffe Alison M
Abstract excerpt
People with activated PI3 kinase delta syndrome 1 (APDS1) suffer from immune deficiency and severe bronchiectasis. APDS1 is caused by dominant activating mutations of the PIK3CD gene that encodes the PI3 kinase delta (PI3Kδ) catalytic subunit. Despite the importance of innate immunity defects in bronchiectasis, there has been limited investigation of neutrophils or macrophages in APDS1 patients or mouse models....
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