What causes autoimmune lymphoproliferative syndrome (ALPS)?

Updated: Jul 29, 2019
  • Author: Akaluck Thatayatikom, MD, RhMSUS; Chief Editor: Harumi Jyonouchi, MD  more...
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For most cases of ALPS, the genetic mutation has been identified in the extrinsic apoptosis pathway. The mutation in the intrinsic pathway is extremely rare. [1, 8] Although 20% of ALPS patients have no identifiable mutation that leads to their defective lymphocyte apoptosis, they may still meet the diagnostic criteria for ALPS or an ALPS-related disorder (see Workup).

In patients with ALPS, the disease process can often be explained by the failure to eliminate redundant lymphocyte populations properly. As noted (see above), lymphocytes that are potentially autoreactive or oncogenic predispose these patients to the development of autoimmune diseases and lymphoma.

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