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Blood, 15 March 2005, Vol. 105, No. 6, pp. 2443-2448.
Prepublished online as a Blood First Edition Paper on November 12, 2004; DOI 10.1182/blood-2004-09-3542.
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Submitted September 13, 2004
Accepted November 6, 2004
Unmasking Evans Syndrome: T cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)
David T Teachey, Catherine S Manno, Kelly M Axsom, Timothy Andrews, John K Choi, Barbara H Greenbaum, Joseph M McMann, Kathleen E Sullivan, Susan F Travis, and Stephan A Grupp*
Division of Oncology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; Division of Hematology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Division of Hematology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Division of Immunology in the Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Division of Oncology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
* Corresponding author; email: grupp{at}email.chop.edu.
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 two hematologic cell types. We hypothesized 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 six patients displayed normal T cell apoptosis; five of whom had normal DNTs and one had a borderline result. Thus, 7/12 (58%) of ES patients had elevated DNTs suggestive of ALPS, with functional confirmation in 6/7. 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 ES patients may have ALPS, a novel finding with important therapeutic implications.
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