CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.

@article{Zelm2010CD81GD,
  title={CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.},
  author={Menno C van Zelm and Julie Smet and Brigitte Adams and Françoise Mascart and Liliane Schand{\'e}n{\'e} and Françoise Janssen and Alina Ferster and C L Kuo and S. Y. Levy and Jacques J M van Dongen and Mirjam van der Burg},
  journal={The Journal of clinical investigation},
  year={2010},
  volume={120 4},
  pages={1265-74}
}
Antibody deficiencies constitute the largest group of symptomatic primary immunodeficiency diseases. In several patients, mutations in CD19 have been found to underlie disease, demonstrating the critical role for the protein encoded by this gene in antibody responses; CD19 functions in a complex with CD21, CD81, and CD225 to signal with the B cell receptor upon antigen recognition. We report here a patient with severe nephropathy and profound hypogammaglobulinemia. The immunodeficiency was… CONTINUE READING