Edeer-Karaca Neslihan, Gülez Nesrin, Aksu Güzide, Kütükcüler Necil
Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
Turk J Pediatr. 2010 Jan-Feb;52(1):89-93.
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.
普通可变免疫缺陷(CVID)是一种免疫缺陷综合征,其特征为全身性抗体产生缺陷和反复发生的鼻窦肺部细菌感染。自身免疫性疾病在CVID中很常见,约20%的患者会出现,女性略占优势。CVID的家族遗传非常罕见,我们在此报告两名患有CVID的兄弟姐妹,他们表现出显著的自身免疫表现,如复发性多软骨炎、幼年特发性关节炎和慢性炎症性肠病。在这些患者中,常规静脉注射免疫球蛋白替代治疗、预防性抗生素和免疫抑制剂对自身免疫和炎症并发症的改善作用甚微。