The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 1
Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings
Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey
Common variable immunodeficiency (CVID) is an immunodeficiency syndrome
characterized by generalized defective antibody production and recurrent
sinopulmonary bacterial infections. Autoimmune disease is common in CVID,
occurring in approximately 20% of patients, with a slight female predominance.
Familial inheritance of CVID is very rare, and we here report two siblings
with CVID presenting remarkable autoimmune manifestations such as relapsing
polychondritis, juvenile idiopathic arthritis and chronic inflammatory bowel
disease. Autoimmune and inflammatory complications showed minimal
improvement under regular intravenous immunoglobulin replacement therapy,
prophylactic antibiotics and immunosuppressives in these patients.
Keywords :
common variable immunodeficiency, autoimmunity, familial inheritance.