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Humoral Primary Immunodeficiencies pp 131–147Cite as

BAFF Receptor Deficiency

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Part of the Rare Diseases of the Immune System book series (RDIS)

Abstract

BAFF receptor (BAFF = B cell-activating factor of the TNF family) is a main pro-survival receptor expressed by human B cells. BAFFR deficiency is caused by a homologous deletion within the BAFFR gene (TNFRSF13C). The mutation causes a severe block of B cell development at the stage of immature B cells leading to agammaglobulinemia, impaired humoral immune responses, and immunodeficiency (Warnatz et al., Proc Natl Acad Sci USA 106:13945–50, 2009). In this chapter, we will discuss the main characteristics, the expression, and the signaling properties of BAFF receptor to provide the background information which is needed to explaining the clinical and immunological consequences of BAFFR deficiency and of BAFFR missense mutations.

Keywords

  • BAFF
  • BAFF receptor
  • TNF
  • B cells
  • Cytokines
  • TNF receptor

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  • DOI: 10.1007/978-3-319-91785-6_11
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Fig. 11.1
Fig. 11.2
Fig. 11.3

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  1. Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center—University of Freiburg, University of Freiburg, Freiburg, Germany

    Cristian R. Smulski, Patricia Odermatt & Hermann Eibel

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  1. Cristian R. Smulski
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  2. Patricia Odermatt
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  1. Careggi Hospital, Department of Clinical and Experimental Medicine, University of Florence, Firenze, Italy

    Prof. Dr. Mario Milco D'Elios

  2. University Medical Centre Freiburg, Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency, Freiburg, Germany

    Ph.D. Marta Rizzi

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Smulski, C.R., Odermatt, P., Eibel, H. (2019). BAFF Receptor Deficiency. In: D'Elios, M., Rizzi, M. (eds) Humoral Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-319-91785-6_11

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