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...
This is a preview of subscription content, log in via an institution to check access.
References
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.
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.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media LLC
About this entry
Cite this entry
Warnatz, K. (2018). Baff-Receptor Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_29-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_29-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine