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  • Title: Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings.
    Author: Edeer-Karaca N, Gülez N, Aksu G, Kütükcüler N.
    Journal: Turk J Pediatr; 2010; 52(1):89-93. PubMed ID: 20402074.
    Abstract:
    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.
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