Farough S, Karaa A, Walker M A, Slate N, Dasu T, Verbsky J, Fusunyan R, Canapari C, Kinane T B, Van Cleave J, Sweetser D A, Sims K B, Walter J E
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Department of Genetics, Brigham and Women's Hospital, Children's Hospital, Boston, MA, USA.
Clin Immunol. 2014 Dec;155(2):209-12. doi: 10.1016/j.clim.2014.09.010. Epub 2014 Sep 28.
Coenzyme Q10 (CoQ10) deficiency can manifest diversely, from isolated myopathy to multisystem involvement. Immune dysregulation has not been reported as a feature of the disease. We report a four-year old girl with failure to thrive, recurrent infections, developmental delay with hypotonia, and CoQ10 deficiency with impaired immune function, which improved after CoQ10 and immunoglobulin replacement therapy. Immune dysfunction in CoQ10 deficiency should be considered and treated appropriately.
辅酶Q10（CoQ10）缺乏症的表现多种多样，从孤立性肌病到多系统受累。免疫失调尚未被报道为该疾病的特征。我们报告了一名4岁女童，生长发育迟缓、反复感染、伴有肌张力减退的发育延迟以及CoQ10缺乏伴免疫功能受损，在接受CoQ10和免疫球蛋白替代治疗后病情有所改善。应考虑并适当治疗CoQ10缺乏症中的免疫功能障碍。
