Author/Authors :
D. and Rensing-Ehl، نويسنده , , A. and Warnatz، نويسنده , , K. Abraham-Fuchs، نويسنده , , S. and Schlesier، نويسنده , , M. and Salzer، نويسنده , , U. and Draeger، نويسنده , , R. and Bondzio، نويسنده , , I. and Joos، نويسنده , , Y. and Janda، نويسنده , , A. and Gomes، نويسنده , , M. and Abinun، نويسنده , , M. and Hambleton، نويسنده , , S. and Cant، نويسنده , , A. and Shackley، نويسنده , , F. and Flood، نويسنده , , T. and Waruiru، نويسنده , , C. and Beutel، نويسنده ,
Abstract :
Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway. Raised CD3+TCRαβ+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.
Keywords :
B cells , immunoglobulins , Alps , CVID
