Work

Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study

Year: 2010

Type: article

Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by dysregulation of the Fas apoptotic pathway. Clinical manifestations of ALPS include autoimmune cytopenias, organomegaly, and lymphadenopathy. These findings overlap with Evans syndrome (ES), defined by presence of at least 2 autoimmune cytopenias. We hypothesized a subset of patients with ES have ALPS and tested 45 children at 22 institutions, measuring peripheral blood double-negative T cells (DNTs) and Fas-mediated apoptosis. ALPS was diagnosed in 47% of patients tested. Markedly elevated DNTs (> or = 5%) were a strong predictor of ALPS (positive predictive value = 94%), whereas no patients with DNTs less than 2.5% had ALPS on apoptosis testing. Severity of cytopenias and elevated immunoglobulin levels also predicted ALPS. This is the largest published series describing children with ES and documents a high rate of ALPS among pediatric ES patients. These data suggest that children with ES should be screened for ALPS with DNTs.

Source: Blood

DOI: 10.1182/blood-2009-08-239525

Authors: Alix E. Seif, Catherine S. Manno, Cecilia Sheen, Stephan A. Grupp, David T. Teachey

Institutions: Children's Hospital of Philadelphia, New York University

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: US Immunodeficiency Network, Rockefeller Brothers Fund, Children's Hospital of Philadelphia, Larry and Helen Hoag Foundation