Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose


Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_28-1


Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiency syndromes, affecting approximately 1 in 25,000 (Primary immunodeficiency diseases 1999). The main immunological defect in CVID is a failure of B cells to produce immunoglobulin. This antibody deficiency predisposes patients to recurrent infections, most frequently of the respiratory tract (Yong et al. 2011). Further clinical manifestations may include autoimmunity, enteropathy, granulomatous disease, lymphoproliferation, or malignancy (Hammarstrom et al. 2000). Although generally sporadic, approximately 10% of CVID patients demonstrate familial clustering. Furthermore, it is well established that IgA deficiency (IgAD) can also occur in family members of patients with CVID (Vorechovsky et al. 2000). These observations suggested a genetic background of disease. In the past decade, a growing number of genes and mutations associated with CVID/IgAD have been identified....

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Authors and Affiliations

  1. 1.Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of MedicineAlbert-Ludwigs-University of FreiburgFreiburgGermany
  2. 2.DZIF – German Center for Infection Research, Satellite Center FreiburgFreiburgGermany
  3. 3.CIBSS – Centre for Integrative Biological Signalling StudiesAlbert-Ludwigs UniversityFreiburgGermany
  4. 4.RESIST – Cluster of Excellence 2155 to Hanover Medical School, Satellite Center FreiburgFreiburgGermany
  5. 5.Institute of Immunity and Transplantation, Royal Free HospitalUniversity College LondonLondonUK
  6. 6.Faculty of BiologyAlbert-Ludwigs-University of FreiburgFreiburgGermany

Section editors and affiliations

  • Klaus Warnatz
    • 1
  • Joris M. van Montfrans
    • 2
  1. 1.Center for Chronic ImmunodeficiencyUniversity Medical Center and University of FreiburgFreiburgGermany
  2. 2.UMC UtrechtUtrechtNetherlands