Diagnostic Criteria for Autoimmune Lymphoproliferative Syndrome (ALPS)

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by dysregulation of the immune system due to an inability to regulate lymphocyte homeostasis through the process of lymphocyte apoptosis (a form of programmed cell death). The consequences of this include lymphoproliferative disease, manifested by lymphadenopathy, hepatomegaly, splenomegaly, and an increased risk of lymphoma, as well as autoimmune disease, typically involving blood cells.

Diagnostic criteria for ALPS
Required

  1. Chronic nonmalignant lymphoproliferation
  2. Defective in vitro Fas-mediated lymphocyte apoptosis
  3. At least 1% TCR {alpha}/{beta}+, CD3+, CD4-, CD8- cells (DNTs) in peripheral blood or lymphoid tissue

Supporting

  1. Autoimmune antibodies
  2. Mutations in Fas gene, Fas ligand gene, or caspase 8 or 10 genes

Abbreviations: TCR, T-cell receptor; DNTs, double-negative T cells
 
 
References:

  1. Teachey DT, Manno CS, Axsom KM, Andrews T, Choi JK, Greenbaum BH, McMann JM, Sullivan KE, Travis SF, Grupp SA. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood. 2005 Mar 15;105(6):2443-8. [Medline]
  2. Bleesing JJ, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome: a human disorder of abnormal lymphocyte survival. Pediatr Clin North Am. 2000;47: 1291-1310. [Medline]

Created: Oct 20, 2009

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