Encyclopedia of Medical Immunology

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

Baff-Receptor Deficiency

  • Klaus WarnatzEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_29-1

Definition

The immunodeficiency is defined by deleterious mutations in TNFRSF13C encoding for B cell-activating factor receptor (Baff-R).

Synonyms

Prevalence

So far only two patients with deleterious mutations in TNFRSF13C have been published encoding for Baff-R (Warnatz et al. 2009). However, several patients have been identified carrying point mutations which may contribute to the manifestation of antibody deficiency, but the evidence is less strict, since these variants are also found in healthy people and the immunological presentation doesn’t reflect the expected phenotype of an absent BAFF-R function.

Clinical Presentation

Deleterious mutations. The index patient had upper airway infections since childhood, the first pneumonia at age 37 and was diagnosed at age 57 after his third pneumonia. His older sister never presented with a remarkable susceptibility to infections until old age. Neither BAFF-R deficient person developed autoimmunity, abnormal...

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References

  1. Losi CG, Silini A, Fiorini C, Soresina A, Meini A, Ferrari S, et al. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol. 2005;25(5):496–502.CrossRefPubMedGoogle Scholar
  2. Lougaris V, Baronio M, Moratto D, Cardinale F, Plebani A. Monoallelic BAFFR P21R/H159Y mutations and familiar primary antibody deficiencies. J Clin Immunol. 2016;36(1):1–3.CrossRefPubMedGoogle Scholar
  3. Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, et al. A common single nucleotide polymorphism impairs B-cell activating factor receptor’s multimerization, contributing to common variable immunodeficiency. J Allergy Clin Immunol. 2014;133(4):1222–5.CrossRefPubMedGoogle Scholar
  4. Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Bohm J, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009;106(33):13945–50.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Yan M, Brady JR, Chan B, Lee WP, Hsu B, Harless S, et al. Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. Curr Biol. 2001;11(19):1547–52.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Center for Chronic ImmunodeficiencyUniversity Medical Center and University of FreiburgFreiburgGermany

Section editors and affiliations

  • Klaus Warnatz
    • 1
  • Joris M. van Montfrans
    • 2
  1. 1.Center for Chronic Immunodeficiency, University of FreiburgFreiburgGermany
  2. 2.UMC UtrechtUtrechtNetherlands