title: Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings.
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.
authors.affiliation: Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Edeer-Karaca
authors.forename: Nesrin
authors.initials: N
authors.lastname: Gülez
authors.forename: Güzide
authors.initials: G
authors.lastname: Aksu
authors.forename: Necil
authors.initials: N
authors.lastname: Kütükcüler
mesh_terms: D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D017809:Fatal Outcome; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant
chemical_list: D016756:Immunoglobulins, Intravenous