Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy. Incomplete penetrance is common among IEIs despite their monogenic basis. Here we investigate the contribution of autosomal random monoallelic expression (aRMAE), a somatic commitment to the expression of one allele, to phenotypic variability observed in families with IEIs.
View Article and Find Full Text PDFThe spectrum of known monogenic inborn errors of immunity is growing, with certain disorder underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.
View Article and Find Full Text PDFBackground: The long-term monitoring of the plant cover of Doñana shrublands is part of a harmonised protocol for the Long-term Ecological Monitoring Programme of Natural Resources and Processes targeting Terrestrial Vegetation. The general aim of this protocol is to monitor and assess the dynamics and trends of shrubland plant communities in Doñana. For shrublands, percentage cover is recorded annually, starting in 2008, by the Doñana Long-Term Monitoring Team in one field sampling campaign per year during the flowering season (between March and May) across 21 permanent square plots (15 m x 15 m).
View Article and Find Full Text PDF