Article
PI3Kδ and primary immunodeficiencies.
Nature reviews. Immunology - 1 Nov 2016
Lucas Carrie L, Chandra Anita, Nejentsev Sergey, Condliffe Alison M, Okkenhaug Klaus
Abstract excerpt
Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a combined immunodeficiency syndrome, referred to as activated...
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