Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited non-malignant and non-infectious lymphoproliferative syndrome caused by mutations in genes affecting the extrinsic apoptotic pathway (FAS, FASL, CASP10). The resulting FAS-mediated apoptosis defect accounts for the expansion and accumulation of autoreactive (double-negative) T cells leading to cytopenias, splenomegaly, lymphadenopathy, autoimmune...

Topics

• Adaptor Proteins, Signal Transducing
• Autoimmune Lymphoproliferative Syndrome
• Humans
• Mutation
• Signal Transduction
• T-Lymphocytes, Regulatory