CVID8 is a phenotypically heterogeneous disorder caused by immunological dysfunction. Immunoglobulin levels are very low in affected individuals. The disorder is characterized by recurrent bacterial infections, particularly of the respiratory tract; inflammation or infection of the gastrointestinal tract, resulting in frequent bouts of diarrhoea; and an abnormal accumulation of immune cells resulting in lymphadenopathy and splenomegaly. Patients may also develop auto-immune disorders such as immune thrombocytopenia purpura, autoimmune hemolytic anemia, rheumatoid arthritis or non-Hodgkin’s lymphoma.
