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In the past two decades there have been increasing efforts to unravel the genetic defects in CVID. Here, we provide an overview of our current understanding of the genetic basis of these defects, as revealed over time by earlier linkage studies in large cohorts, analysis of families with recessive inheritance, targeted gene approaches, and genome\u2010wide association studies using single nucleotide polymorphism arrays and copy number variation, and whole genome studies.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2011.06338.x","type":"journal-article","created":{"date-parts":[[2012,1,5]],"date-time":"2012-01-05T07:41:23Z","timestamp":1325749283000},"page":"41-49","source":"Crossref","is-referenced-by-count":53,"title":["Perspectives on common variable immune deficiency"],"prefix":"10.1111","volume":"1246","author":[{"given":"Joon H.","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena S.","family":"Resnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Cunningham\u2010Rundles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,3]]},"reference":[{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/clim.1999.4725"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-11-124545"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.021908.132649"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-001-0027-1"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.10.013"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07669.x"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00042871-200403000-00017"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195406172502403"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1995.1142"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2776(08)60744-0"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.164.8.4408"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198512263132602"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.170.5.2765"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-100"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.02.039"},{"key":"e_1_2_10_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0101-1"},{"key":"e_1_2_10_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-2977(01)00151-6"},{"key":"e_1_2_10_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201634"},{"key":"e_1_2_10_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/16717"},{"key":"e_1_2_10_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-4141(199802)28:02<508::AID-IMMU508>3.0.CO;2-I"},{"key":"e_1_2_10_22_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.159.5.2085"},{"key":"e_1_2_10_23_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.5.1890"},{"key":"e_1_2_10_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/1521-4141(200209)32:9<2680::AID-IMMU2680>3.0.CO;2-6"},{"key":"e_1_2_10_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni902"},{"key":"e_1_2_10_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2004.07.002"},{"key":"e_1_2_10_27_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.0803256"},{"key":"e_1_2_10_28_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1373518"},{"key":"e_1_2_10_29_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051568"},{"key":"e_1_2_10_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364431"},{"key":"e_1_2_10_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.10.019"},{"key":"e_1_2_10_32_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI39748"},{"key":"e_1_2_10_33_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.185.8.1505"},{"key":"e_1_2_10_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.14.4217"},{"key":"e_1_2_10_35_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.20.10844"},{"key":"e_1_2_10_36_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.125.4.1678"},{"key":"e_1_2_10_37_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002510100339"},{"key":"e_1_2_10_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5699(94)90276-3"},{"key":"e_1_2_10_39_2","doi-asserted-by":"crossref","first-page":"973","DOI":"10.4049\/jimmunol.135.2.973","article-title":"The B cell surface molecule B1 is functionally linked with B cell activation and differentiation","volume":"135","author":"Tedder T.F.","year":"1985","journal-title":"J. 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