Department of Medicine, The Immunology Institute, The Mount Sinai School of Medicine, 1425 Madison Avenue, New York City, NY 10029, USA.
Immunol Res. 2012 Dec;54(1-3):227-32. doi: 10.1007/s12026-012-8318-2.
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 ≈ 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.
虽然原发性免疫缺陷通常被认为会导致婴儿和儿童出现严重且易于识别的疾病，但许多影响 B 细胞功能的遗传缺陷在成年后才会显现或诊断出来。其中最常见的是普通可变免疫缺陷，其遗传起源至少在一定程度上开始被理解。CVID 影响约每 25000 名白种人中的 1 人，其特征是血清 IgG 显著减少，几乎总是在血清 IgA 中，约一半的病例中血清 IgM 减少；这些缺陷继续为研究人类 B 细胞功能所需的基因提供机会。最近，在导致不同程度低丙种球蛋白血症和抗体产生丧失的同系家族中，已经确定了一些正常 B 细胞功能所需的少量基因。在其他研究中，全外显子组测序和拷贝数变异应用于大样本队列，扩展了对该综合征遗传基础和 CVID 临床表型的研究。
