Primary Antibody Deficiencies
Primary Antibody Deficiencies
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原发性抗体缺陷。
DOI：
10.1007/978-981-15-3532-1_10
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发表时间：
2020-01-01
期刊：
影响因子：
--
通讯作者：
Wang, Ji-Yang
中科院分区：
文献类型：
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作者：
Min, Qing;Meng, Xin;Wang, Ji-Yang
原发性抗体缺陷病（PADs）是最常见的遗传性原发性免疫缺陷病（PIDs）类型，可在任何年龄发病，具有广泛的临床表现，包括易感染、自身免疫和癌症。抗体由B细胞产生，因此，影响B细胞发育、激活、分化或抗体分泌的遗传缺陷都可导致PADs。全外显子组和全基因组测序方法有助于识别与PADs发病机制有关的遗传缺陷。在此，我们总结了不同类型PADs的临床表现、致病基因、疾病机制和临床治疗。
Primary antibody deficiencies (PADs) are the most common types of inherited primary immunodeficiency diseases (PIDs) presenting at any age, with a broad spectrum of clinical manifestations including susceptibility to infections, autoimmunity and cancer. Antibodies are produced by B cells, and consequently, genetic defects affecting B cell development, activation, differentiation or antibody secretion can all lead to PADs. Whole exome and whole genome sequencing approaches have helped identify genetic defects that are involved in the pathogenesis of PADs. Here, we summarize the clinical manifestations, causal genes, disease mechanisms and clinical treatments of different types of PADs.