Publications

Abstract

Splenomegaly is a well-recognized complication in patients with common variable immunodeficiency (CVID), particularly those with an abnormal accumulation of mature CD21lo B cells in peripheral blood [1]. In CVID, splenomegaly is associated with hypersplenism, autoimmune cytopenias, and secondary lymphoma [2]. Patients with suspected lymphoma and refractory cytopenias may require splenectomy despite intensive treatment with steroids and rituximab, and this places them at increased risk of overwhelming post-splenectomy infections [3, 4]. We describe a patient with late-onset primary antibody deficiency, lymphoproliferative disease with generalized lymphadenopathy and massive splenomegaly, and progressive thrombocytopenia. The patient had expanded mature CD21lo B cells and activated effector memory CD4+ and CD8+ T cells, and overactive mTOR signaling. Treatment with rapamycin corrected the thrombocytopenia and reversed the lymphoproliferation.