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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage
Genetic mutations cause primary immunodeficiencies (PIDs), which predispose to infections. Here we describe Activated PI3K-δ Syndrome (APDS), a PID associated with a dominant gain-of-function mutation E1021K in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded...
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3930011/ https://ncbi.nlm.nih.gov/pubmed/24136356 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1243292 |
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