Article
A mutation in the human tetraspanin CD81 gene is expressed as a truncated protein but does not enable CD19 maturation and cell surface expression.
Journal of clinical immunology - 1 Apr 2015
Vences-Catalán Felipe, Kuo Chiung-Chi, Sagi Yael, Chen Homer, Kela-Madar Neta, van Zelm Menno C, van Dongen Jacques J M, Levy Shoshana
Abstract excerpt
A homozygous mutation in a splice site of the CD81 gene was identified previously in a patient, as the cause in a case of common variable immune deficiency (CVID). CD19 expression is reduced in mice that lack CD81; however, B cells in this patient lacked completely CD19 surface expression. The mutation led to an absence of the CD81 protein on the cell surface and it was assumed that the CD81 protein was not...
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