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Autoimmune manifestations in common variable immunodeficiency Cunningham-Rundles CJ Clin Immunol 2008[May]; 28 Suppl 1 (Suppl 1): S42-5INTRODUCTION: About 20% of subjects with common variable immune deficiency (CVID) develop an autoimmune complication, most often immune thrombocytopenia or hemolytic anemia. While the pathogenesis of autoreactivity is unknown for CVID subjects in general, and to a greater extent in those with autoimmunity, there is a loss of switched memory B cells. DISCUSSION: About 7-8% of CVID subjects have mutations in the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI), a significant association with this immune defect, although the same mutations may be found in normal relatives and rarely in healthy blood donors. In addition to generalized B cell dysfunction, defective elimination of autoimmune B cells has been demonstrated.|*Autoimmunity/genetics[MESH]|Adult[MESH]|Antibodies, Monoclonal, Murine-Derived[MESH]|Antibodies, Monoclonal/administration & dosage/therapeutic use[MESH]|Autoimmune Diseases/etiology/immunology[MESH]|B-Lymphocytes/*cytology/physiology[MESH]|Child, Preschool[MESH]|Common Variable Immunodeficiency/complications/drug therapy/genetics/*immunology[MESH]|Female[MESH]|Humans[MESH]|Immunoglobulin Class Switching/physiology[MESH]|Immunoglobulins, Intravenous/therapeutic use[MESH]|Immunologic Memory/genetics[MESH]|Male[MESH]|Mutation[MESH]|Rituximab[MESH]|Transmembrane Activator and CAML Interactor Protein/*genetics/immunology[MESH] |
