Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

@article{Bogaert2016GenesAW,
  title={Genes associated with common variable immunodeficiency: one diagnosis to rule them all?},
  author={Delfien J. A. Bogaert and Melissa Dullaers and Bart M. Lambrecht and Karim Y. Vermaelen and Elfride De Baere and Filomeen Haerynck},
  journal={Journal of medical genetics},
  year={2016},
  volume={53 9},
  pages={575-90}
}
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R… CONTINUE READING
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