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- W2011528191 startingPage "39" @default.
- W2011528191 abstract "Human primary immunodeficiencies impairing myeloid and/or lymphoid cellular responses to activating receptors other than antigen receptors have recently been described in children with various infectious diseases. Germline mutations in NEMO and IKBA impair NF-kappaB-mediated signalling, at least in response to the stimulation of TLRs, IL-1Rs and TNFRs, and confer a broad predisposition to infections. Mutations in IRAK4 selectively impair TLRs other than TLR3 and most IL-1R responses, and confer a predisposition to pyogenic bacterial diseases, including invasive pneumococcal disease in particular. Mutations in TLR3 and UNC93B1 impair TLR3 responses and confer a predisposition to herpes simplex encephalitis. Mutations in STAT1 impair IFN-gamma and/or IFN-alpha/beta responses and predispose subjects to mycobacterial and viral diseases, respectively. Mutations in IFNGR1 and IFNGR2 impair IFN-gamma responses and confer a predisposition to mycobacterial diseases. Mutations in IL12B and IL12RB1 impair IL-12 and IL-23 responses and predispose subjects to infections caused by mycobacteria and Salmonella. Finally, mutations in TYK2 and STAT3 mostly impair IL-6R responses, conferring a predisposition to staphylococcal disease in particular. The infectious phenotypes associated with these novel leukocyte activation deficiencies are therefore collectively diverse, tightly dependent on the morbid gene and affected pathway, and individually narrow, often restricted to one or a few infectious diseases." @default.
- W2011528191 created "2016-06-24" @default.
- W2011528191 creator A5047928635 @default.
- W2011528191 creator A5062601012 @default.
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- W2011528191 creator A5078211882 @default.
- W2011528191 creator A5083070243 @default.
- W2011528191 creator A5090497008 @default.
- W2011528191 date "2008-02-01" @default.
- W2011528191 modified "2023-10-18" @default.
- W2011528191 title "Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases" @default.
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