The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood

Clin Rheumatol. 2004 Feb;23(1):43-4. doi: 10.1007/s10067-003-0830-2. Epub 2003 Dec 20.


The autoimmune lymphoproliferative syndrome (ALPS) or Canale-Smith syndrome is a recently described clinical entity consisting of chronic, non-malignant lymphadenopathy and hepatosplenomegaly together with hypergammaglobulinemia, positive autoantibodies and/or overt autoimmune diseases. It is caused by a genetic defect in the mechanism of programmed cell death (apoptosis) and is characterized by the presence of double-negative (TCR alpha/beta CD4- CD8-) T lymphocytes (DNT). Although well known in pediatric patients, ALPS is an unusual diagnosis in adults. The oldest reported patient was aged 54. We describe another two adult patients in whom a presenting autoimmune disease led to the diagnosis of ALPS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Apoptosis
  • Autoantibodies / analysis
  • Autoimmune Diseases / drug therapy
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / pathology*
  • Female
  • Glucocorticoids / therapeutic use
  • Humans
  • Lymphoproliferative Disorders / drug therapy
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / pathology*
  • Middle Aged
  • Syndrome
  • T-Lymphocytes / pathology
  • Treatment Outcome


  • Autoantibodies
  • Glucocorticoids