Human B cell defects in perspective
Human B cell defects in perspective
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DOI：
10.1007/s12026-012-8318-2
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发表时间：
2012-12-01
影响因子：
4.4
通讯作者：
Cunningham-Rundles, Charlotte
中科院分区：
文献类型：
--
作者：
Cunningham-Rundles, Charlotte
虽然原发性免疫缺陷通常被认为是导致婴儿和儿童严重且容易识别的疾病，但一些损害B细胞功能的遗传缺陷可能在临床上不明显或直到成年才被诊断出来。其中最常见的是常见的可变免疫缺陷，其遗传起源至少部分开始被了解。CVID影响1/ 25000白种人的千分之一，其特点是血清IgG显著降低，几乎总是血清IgA，大约一半的病例血清IgM降低；这些缺陷继续为研究人类B细胞功能所需的基因提供了机会。最近，在近亲家族中发现了少量正常B细胞功能所必需的基因，导致不同程度的低γ球蛋白血症和抗体产生的丧失。在其他研究中，将全外显子组测序和拷贝数变异应用于大型队列，扩展了对该综合征的遗传基础和CVID临床表型的研究。
While primary immune defects are generally considered to lead to severe and easily recognized disease in infants and children, a number of genetic defects impairing B cell function may not be clinically apparent or diagnosed until adult life. The commonest of these is common variable immune deficiency, the genetic origins of which are beginning to be at least partially understood. CVID affects a parts per thousand 1/25,000 Caucasians and is characterized by a marked reduction in serum IgG, almost always in serum IgA, and reduced serum IgM in about half of all cases; these defects continue to provide an opportunity to investigate the genes necessary for B cell function in humans. Recently, a small number of genes necessary for normal B cell function have been identified in consanguineous families leading to varying degrees of hypogammaglobulinemia and loss of antibody production. In other studies, whole-exome sequencing and copy number variation, applied to large cohorts, have extended research into understanding both the genetic basis of this syndrome and the clinical phenotypes of CVID.