ALPS

[autoimmune lymphoproliferative syndrome] This human inheritable disorder, known also as Canale-Smith syndrome, manifests itself by nonmalignant lymphoproliferation and autoimmune symptoms. It is caused by defective cell death by apoptosis of lymphocytes.

Type Ia ALPS [ALPS1A] is caused by mutations in the receptor for CD95 (FAS antigen, APO-1).

Type Ib ALPS is caused by defects in the FAS ligand (CD95L). Many of these mutation have been localized to the death domain of CD95 (Drappa et al, 1996; Fisher et al, 1995).

Type 2 ALPS ... ... ... ...
 
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Entry last modified: June 2010