Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
Buenos Aires, Argentina. In Am J Med Genet A, Feb 2016
44,798,701-45,334,537) x1 and arr[hg19]Chr17(17q25.3; 80,544,855-81,057,996) x1) and a terminal duplication (arr[hg19]Chr7(7p22.3-p22.2;
Chronic Granulomatous Disease: clinical, molecular and therapeutic aspects.
Roma, Italy. In Pediatr Allergy Immunol, Jan 2016
CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA, NCF1, NCF2 or NCF4 genes encoding p22(phox) , p47(phox) , p67(phox) and p40(phox) , respectively.
Norovirus mechanisms of immune antagonism.
Gainesville, United States. In Curr Opin Virol, Jan 2016
In this review, we discuss these emerging strategies used by noroviruses to subvert the immune response, including the actions of two nonstructural proteins (p48 and p22) to impair cellular protein trafficking and secretory pathways; the ability of the VF1 protein to inhibit cytokine induction; and the ability of the minor structural protein VP2 to regulate antigen presentation.
Residual NADPH oxidase and survival in chronic granulomatous disease.
Frederick, United States. In N Engl J Med, 2011
Chronic granulomatous disease is caused by missense, nonsense, frameshift, splice, or deletion mutations in the genes for p22(phox), p40(phox), p47(phox), p67(phox) (autosomal chronic granulomatous disease), or gp91(phox) (X-linked chronic granulomatous disease), which result in variable production of neutrophil-derived ROIs.