CD81 was first reported in relation to autosomal recessive common variable immunodeficiency in 2010 (van Zelm et al., PMID: 25739915). This single case report described a homozygous splice variant predicted to undergo NMD that was present in the heterozygous state in both unaffected parents and one unaffected sibling. Expression of CD81 and CD19 was found to be absent on the patient's B cells and reduced for familial carriers.This gene-disease relationship is further supported by protein interactions (Bradbury et al., 1992, PMID: 1383329), boichemical function (Tedder, et al., 1997, PMID: 9047233), and expression analysis (Oren, et al., 1990, PMID: 1695320). Three independent CD81-knockout mice were found to partially recapitulate the cellular and molecular phenotype seen in the human patient, but did not exhibit an overlapping clinical phenotype (Miyazaki, et al., 1997, PMID: 9250665, Tsitsikov, et al., 1997, PMID: 9380722, Maecker, et al., 1997, PMID: 9126932). In summary, there is limited evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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