Autoimmune Lymphoproliferative Syndrome: A Case Report

Autoimmune lymphoproliferative syndrome is an impairment of lymphocyte apoptosis expressed by generalized non-malignant lymphoproliferation, lymphadenopathy and/or splenomegaly. We report the case of a 7-year-old male patient presentingwith relapsing generalized lymphadenopathy, splenomegaly, bicytopenia (autoimmune hemolytic anemia and thrombocytopenia), and lymphocytosis. Immunological investigations concluded to defective in vitro tumor necrosis factor receptor superfamily member 6 (Fas)-mediated apoptosis and T cells that express the alpha/beta T-cell receptor and lack of both CD4 and CD8(so-called α/β-DNT cells), and expansion of an unusual population of α/βCD3+CD4-CD8- (double-negative T cells>1%). Treatment consisted ofcorticosteroids, intravenous immunoglobulin, and cyclosporine, with favorable outcome.