Lymphoproliferation; T cell infiltrates in multiple organs, especially heart; lethal by 3-4 weeks
Failure of anergy in CD4+ T cells; defective function of regulatory T cells
CTLA-4 polymorphisms associated with several autoimmune diseases
Anti-DNA and other autoantibodies; immune complex nephritis; arthritis; lymphoproliferation
Defective deletion of anergic self-reactive B cells; reduced deletion of mature CD4+ T cells
Autoimmune lymphoproliferative syndrome (ALPS)
Multiorgan lymphocytic infiltrates, wasting
Deficiency of functional regulatory T cells
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