CTLA-4 haploinsufficiency leads to late-onset autoimmune pathology in mice
Summary In humans, the loss of function in a single copy of the CTLA4 gene leads to an immune disorder characterized by a spectrum of immunodeficient and autoimmune manifestations. To investigate the pathogenicity of CTLA-4 haploinsufficiency, we utilized a heterozygous mouse model carrying a patient-derived Y139C muta...