In addition to susceptibility to infections,conventional primary immunodeficiency disorders(PIDs)and inborn errors of immunity(IEI)can cause immune dysregulation,manifesting as lymphoproliferative and/or autoimmune di...In addition to susceptibility to infections,conventional primary immunodeficiency disorders(PIDs)and inborn errors of immunity(IEI)can cause immune dysregulation,manifesting as lymphoproliferative and/or autoimmune disease.Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases,such as arthritis,systemic lupus erythematosus(SLE),and Sjogren’s syndrome(SjS).Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore common pathogenic mechanisms.Here,we explore the interconnected pathogenic pathways of autoimmunity and primary immunodeficiency,highlighting the mechanisms breaking the different layers of immune tolerance to self-antigens in selected IEI.展开更多
基金funding by the DZIF TTU 07.806_00(German Centre for Infection Research)the Deutsche Forschungsgemeinschaft(DFG,German Research Foundation)under Germany’s Excellence Strategy–EXC 2155“RESIST”–Project ID 39087428+1 种基金the German Federal Ministry of Education and Research(BMBF,01GM1910E)the Rosemarie-Germscheid Foundation.
文摘In addition to susceptibility to infections,conventional primary immunodeficiency disorders(PIDs)and inborn errors of immunity(IEI)can cause immune dysregulation,manifesting as lymphoproliferative and/or autoimmune disease.Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases,such as arthritis,systemic lupus erythematosus(SLE),and Sjogren’s syndrome(SjS).Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore common pathogenic mechanisms.Here,we explore the interconnected pathogenic pathways of autoimmunity and primary immunodeficiency,highlighting the mechanisms breaking the different layers of immune tolerance to self-antigens in selected IEI.
