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autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome,〔Straus SE, Jaffe ES, Puck JM et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001 Jul 1;98(1):194-200. PMID 11418480〕 is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis.〔 It is a RASopathy.
It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis.〔 Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers.〔
==Genetics==
This condition is usually caused by mutations in the FAS gene. Rarely cases due to mutations in other genes including the
FAS ligand gene have been reported.〔Magerus-Chatinet A, Stolzenberg MC, Lanzarotti N, Neven B, Daussy C, Picard C, Neveux N, Desai M, Rao M, Ghosh K, Madkaikar M, Fischer A, Rieux-Laucat F (2012) Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. J Allergy Clin Immunol〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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