Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation.

@article{Zelm2011AntibodyDD,
  title={Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation.},
  author={Menno C van Zelm and Julie Smet and Mirjam van der Burg and Alina Ferster and Phu Quoc L{\^e} and Liliane Schand{\'e}n{\'e} and Jacques J M van Dongen and Françoise Mascart},
  journal={Human molecular genetics},
  year={2011},
  volume={20 9},
  pages={1854-63}
}
Immunoglobulin superfamily (IgSF) domains are conserved structures present in many proteins in eukaryotes and prokaryotes. These domains are well-capable of facilitating sequence variation, which is most clearly illustrated by the variable regions in immunoglobulins (Igs) and T cell receptors (TRs). We studied an antibody-deficient patient suffering from recurrent respiratory infections and with impaired antibody responses to vaccinations. Patient's B cells showed impaired Ca(2+) influx upon… CONTINUE READING

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