Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)

Blood. 2005 Mar 15;105(6):2443-8. doi: 10.1182/blood-2004-09-3542. Epub 2004 Nov 12.

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of disrupted lymphocyte homeostasis. Clinical manifestations of ALPS vary but typically include autoimmune cytopenias, organomegaly, lymphadenopathy, and increased risk of malignancies. A similar spectrum of symptoms may be seen in some patients with Evans syndrome (ES), a hematologic disorder defined by autoimmune destruction of at least 2 hematologic cell types. We hypothesized that a subset of patients diagnosed with ES may have ALPS. We screened 12 children with ES by flow cytometric analysis for CD4-/CD8- (double negative) T cells (DNTs) and with the definitive test for ALPS, defective in vitro Fas-mediated apoptosis. Six of the patients had elevated DNTs, suggestive of ALPS and also had defective Fas-mediated apoptosis. The other 6 patients displayed normal T-cell apoptosis; 5 of whom had normal DNTs, and 1 had a borderline result. Thus, 7 (58%) of 12 patients with ES had elevated DNTs suggestive of ALPS, with functional confirmation in 6 of 7. This suggests that analysis of DNTs may be a sensitive first-line screening test, serving as a marker of patients who should undergo definitive testing for ALPS. Our data further suggest that a number of patients with ES may have ALPS, a novel finding with important therapeutic implications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Apoptosis / immunology*
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / pathology
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Hematologic Tests
  • Hematopoietic Stem Cells / immunology*
  • Hematopoietic Stem Cells / pathology
  • Homeostasis / immunology
  • Humans
  • Infant
  • Lymphatic Diseases / diagnosis
  • Lymphatic Diseases / immunology
  • Lymphatic Diseases / pathology
  • Lymphoproliferative Disorders / diagnosis
  • Lymphoproliferative Disorders / immunology*
  • Lymphoproliferative Disorders / pathology
  • Male
  • Predictive Value of Tests
  • Syndrome
  • T-Lymphocytes / immunology*
  • T-Lymphocytes / pathology
  • fas Receptor / immunology

Substances

  • fas Receptor