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- W2892099889 abstract "Antibody production and function represent an essential part of the immune response, particularly in fighting bacterial and viral infections. Multiple immunological phenotypes can result in dysregulation of the immune system humoral compartment, including class-switched recombination (CSR) defects associated with hyper-IgM (HIGM) syndromes. The CSR/HIGM syndromes are defined by the presence of normal or elevated plasma IgM levels in the context of low levels of switched IgG, IgA, and IgE isotypes. Recently described autosomal dominant gain-of-function (GOF) mutations in PIK3CD and PIK3R1 cause combined immunodeficiencies that can also present as CSR/HIGM defects. These defects, their pathophysiology and derived clinical manifestations are described in depth. Previously reported forms of CSR/HIGM syndromes are briefly reviewed and compared to the phosphoinositide 3-kinase (PI3K) pathway defects. Diseases involving the PI3K pathway represent a distinctive subset of CSR/HIGM syndromes, presenting with their own characteristic clinical and laboratory attributes as well as individual therapeutic approaches." @default.
- W2892099889 created "2018-09-27" @default.
- W2892099889 creator A5049818360 @default.
- W2892099889 creator A5059371414 @default.
- W2892099889 creator A5079240199 @default.
- W2892099889 creator A5084785827 @default.
- W2892099889 date "2018-09-26" @default.
- W2892099889 modified "2023-09-26" @default.
- W2892099889 title "Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects" @default.
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- W2892099889 doi "https://doi.org/10.3389/fimmu.2018.02172" @default.
- W2892099889 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6168630" @default.
- W2892099889 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30319630" @default.
- W2892099889 hasPublicationYear "2018" @default.
- W2892099889 type Work @default.