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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
  1. Delfien J A Bogaert1,2,3,4,
  2. Melissa Dullaers1,4,5,
  3. Bart N Lambrecht4,5,
  4. Karim Y Vermaelen1,5,6,
  5. Elfride De Baere3,
  6. Filomeen Haerynck1,2
  1. 1Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium
  2. 2Department of Pediatric Immunology and Pulmonology, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium
  3. 3Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
  4. 4Laboratory of Immunoregulation, VIB Inflammation Research Center, Ghent, Belgium
  5. 5Department of Internal Medicine, Ghent University, Ghent, Belgium
  6. 6Tumor Immunology Laboratory, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium
  1. Correspondence to Dr Filomeen Haerynck, Princess Elisabeth Children's Hospital, 3K12D, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium; Filomeen.Haerynck{at}uzgent.be

Abstract

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), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2. With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. Moreover, there is accumulating evidence that at least a subgroup of patients with CVID has a complex rather than a monogenic inheritance. This review aims to discuss current knowledge regarding the molecular genetic basis of CVID with an emphasis on the relationship with the clinical and immunological phenotype.

  • Common Variable Immunodeficiency
  • Hypogammaglobulinemia
  • Genetics
  • Monogenic
  • Complex inheritance

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