Monogenic immune disorders in adults: from Mendelian inheritance to somatic mosaicism KU Leuven
Disease manifestations of monogenic immune disorders, such as immunodeficiency, autoinflammation or autoimmunity, can be delayed until adulthood and this is mediated through various genetic mechanisms, extending beyond Mendelian inheritance. Despite the discovery of multiple genetic causes in the last decade, most patients lack a molecular diagnosis preventing personalized care. Furthermore, while the role of pathogenic somatic variants is ...