与特发性CD4淋巴细胞减少及继发性种系或获得性缺陷相关的新型隐球菌脑膜脑炎易感性
Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4 Lymphopenia and Secondary Germline or Acquired Defects.
作者信息
Panackal Anil A, Rosen Lindsey B, Uzel Gulbu, Davis Michael J, Hu Guowu, Adeyemo Adebowale, Tekola-Ayele Fasil, Lisco Andrea, Diachok Christopher, Kim Jonathan D, Shaw Dawn, Sereti Irini, Stoddard Jennifer, Niemela Julie, Rosenzweig Sergio D, Bennett John E, Williamson Peter R
机构信息
Laboratory of Clinical Infectious Diseases, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH).
Division of Infectious Diseases, Department of Medicine, F. Hebert School of Medicine, Uniformed Services University of the Health Sciences.
出版信息
Open Forum Infect Dis. 2017 Jun 7;4(2):ofx082. doi: 10.1093/ofid/ofx082. eCollection 2017 Spring.
Abstract
Idiopathic CD4 lymphopenia (ICL) predisposes to opportunistic infections (OIs) but can often remain asymptomatic and does not have a strong association with monogenic mutations. Likewise, cryptococcal meningoencephalitis, the most common OI in ICL, is not strongly associated with monogenic mutations. In this study, we describe 2 patients with ICL plus an additional immune defect: one from an E57K genetic mutation in the nuclear factor-κβ essential modulator, and the other with acquired autoantibodies to granulocyte-macrophage colony-stimulating factor. Thus, these cases may exemplify a "multi-hit model" in patients with ICL who acquire OIs.
摘要
特发性CD4淋巴细胞减少症（ICL）易引发机会性感染（OIs），但通常可保持无症状，且与单基因变异并无紧密关联。同样，隐球菌性脑膜脑炎作为ICL中最常见的机会性感染，也与单基因变异没有很强的相关性。在本研究中，我们描述了2例患有ICL并伴有其他免疫缺陷的患者：1例存在核因子-κβ必需调节因子的E57K基因突变，另1例患有针对粒细胞-巨噬细胞集落刺激因子的自身抗体。因此，这些病例可能例证了ICL患者发生机会性感染的“多重打击模型”。
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