Familial autoimmune cytopenia

We report three members of a family with thrombocytopenia, hemolytic anemia, and neutropenia associated with autoantibodies, and other immunological abnormalities. They do not demonstrate autoimmune manifestations of glomerulitis, skin rashes, arthritis, lymphadenopathy or splenomegaly to suggest autoimmune lymphoprliferative syndrome (ALPS). While Evans Syndrome (autoimmune hemolytic anemia and thrombocytopenia) is well described, our family is unique in their presentation of all three cytopenias in a varying manner in multiple family members. In this report we describe the clinical disease in the affected family members and demonstrate evidence of underlying subtle immune defects. This suggests an inherited genetic defect affecting immune function and resulting in isolated autoimmune cytopenias.