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Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency

Lookup NU author(s): Melanie Gomes, Dr Mario Abinun, Professor Sophie HambletonORCiD, Professor Andrew Cant, Dr Terence Flood

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Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway Raised CD3+TCR alpha beta+CD4-CD8- double negative T cells and impaired T cell apoptosis are hallmarks of the disease In contrast, the B cell compartment has been less well studied We found an altered distribution of B cell subsets with raised transitional B cells and reduced marginal zone B cells, switched memory B cells and plasma blasts in most of 22 analyzed ALPS patients Moreover, 5 out of 66 ALPS patients presented with low IgG and susceptibility to infection revealing a significant overlap between ALPS and common variable immunodeficiency (CVID) In patients presenting with lymphoproliferation, cytopenia, hypogammaglobulinemia and impaired B cell differentiation, serum biomarkers were helpful in addition to apoptosis tests for the identification of ALPS patients Our observations may indicate a role for apoptosis defects in some diseases currently classified as CVID (C) 2010 Elsevier Inc All rights reserved

Publication metadata

Author(s): Rensing-Ehl A, Warnatz K, Fuchs S, Schlesier M, Salzer U, Draeger R, Bondzio I, Joos Y, Janda A, Gomes M, Abinun M, Hambleton S, Cant A, Shackley F, Flood T, Waruiru C, Beutel K, Siepermann K, Dueckers G, Niehues T, Wiesel T, Schuster V, Seidel MG, Minkov M, Sirkia K, Kopp MV, Korhonen M, Schwarz K, Ehl S, Speckmann C

Publication type: Article

Publication status: Published

Journal: Clinical Immunology

Year: 2010

Volume: 137

Issue: 3

Pages: 357-365

Print publication date: 15/09/2010

ISSN (print): 1521-6616

ISSN (electronic): 1521-7035

Publisher: Academic Press

URL: http://dx.doi.org/10.1016/j.clim.2010.08.008

DOI: 10.1016/j.clim.2010.08.008

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