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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