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• W2415094030 endingPage "590" @default.
• W2415094030 startingPage "575" @default.
• W2415094030 abstract "Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2–10% of patients with CVID. Genes that have been implicated in monogenic CVID include <i>ICOS</i>, <i>TNFRSF13B</i> (TACI), <i>TNFRSF13C</i> (BAFF-R), <i>TNFSF12</i> (TWEAK), <i>CD19</i>, <i>CD81</i>, <i>CR2</i> (CD21), <i>MS4A1</i> (CD20), <i>TNFRSF7</i> (CD27), <i>IL21</i>, <i>IL21R</i>, <i>LRBA</i>, <i>CTLA4</i>, <i>PRKCD</i>, <i>PLCG2</i>, <i>NFKB1</i>, <i>NFKB2</i>, <i>PIK3CD</i>, <i>PIK3R1</i>, <i>VAV1</i>, <i>RAC2</i>, <i>BLK</i>, <i>IKZF1</i> (IKAROS) and <i>IRF2BP2</i>. With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. Moreover, there is accumulating evidence that at least a subgroup of patients with CVID has a complex rather than a monogenic inheritance. This review aims to discuss current knowledge regarding the molecular genetic basis of CVID with an emphasis on the relationship with the clinical and immunological phenotype." @default.
• W2415094030 created "2016-06-24" @default.
• W2415094030 creator A5001156641 @default.
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• W2415094030 creator A5069388633 @default.
• W2415094030 creator A5078648107 @default.
• W2415094030 creator A5081780075 @default.
• W2415094030 date "2016-06-01" @default.
• W2415094030 modified "2023-10-01" @default.
• W2415094030 title "Genes associated with common variable immunodeficiency: one diagnosis to rule them all?" @default.
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