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
Felipe Vences-CatalánShoshana Levy

Abstract

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 produced. Here we demonstrate that a truncated human CD81 mutant (CD81mut) was actually produced, but retained intracellularly. We also demonstrate that the truncated CD81mut protein is in close proximity to the intracellularly sequestered CD19. However, this interaction does not enable normal CD19 maturation and surface expression. In addition, we show that specific domains of CD81 enable retrieval and trafficking of human CD19 to the cell surface. Finally, we demonstrate that surface expression of CD19 requires CD81, even in non-B cells.

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Citations

Jun 27, 2015·Biochemical and Biophysical Research Communications·Felipe Vences-CatalánShoshana Levy
Jun 3, 2016·Journal of Medical Genetics·Delfien J A BogaertFilomeen Haerynck
Apr 15, 2017·Biochemical Society Transactions·Felipe Vences-CatalánShoshana Levy
May 28, 2019·The Journal of Experimental Medicine·Felipe Vences-CatalánShoshana Levy
Jun 6, 2018·Frontiers in Immunology·Sophie JungBodo Grimbacher
Jan 16, 2021·Science·Katherine J SusaStephen C Blacklow
Jun 9, 2021·Proceedings of the National Academy of Sciences of the United States of America·Felipe Vences-CatalánShoshana Levy

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