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TWEAK Deficiency

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Humoral Primary Immunodeficiencies

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

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Abstract

TWEAK (TNF-like weak inducer of apoptosis) deficiency has been first described by Wang et al. in 2013 in a single family. It is caused by heterozygous mutations in the TNFSF12/WEAK gene. TWEAK affected individuals have a history of bacterial ear and sinus infections, or pneumonia, osteomyelitis, pneumococcal meningitis, and multiple warts caused by HPV. Noninfectious manifestations included thrombocytopenia and neutropenia. IgA and IgM levels are low, and total IgG or IgG2/IgG4 levels are low in some affected individuals. Affected individuals have impaired or absent antibody responses against T-dependent (diphtheria and tetanus toxoid) and independent antigens (pneumococcal polysaccharides). Total B-cell numbers are reduced with a selective deficiency in CD27+ memory B cells. CD8+ T cells and TCR a/b+ double-negative T cells are increased in numbers.

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Authors and Affiliations

  1. Faculty of Medicine, Department of Rheumatology and Clinical Immunology, Medical Center—University of Freiburg, Freiburg im Breisgau, Germany

    Ulrich Salzer

  2. Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center—University of Freiburg, Freiburg im Breisgau, Germany

    Ulrich Salzer

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  1. Ulrich Salzer
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Correspondence to Ulrich Salzer .

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Editors and Affiliations

  1. Careggi Hospital, Department of Clinical and Experimental Medicine, University of Florence, Firenze, Italy

    Mario Milco D'Elios

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

    Marta Rizzi

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Salzer, U. (2019). TWEAK 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_12

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  • DOI: https://doi.org/10.1007/978-3-319-91785-6_12

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-91784-9

  • Online ISBN: 978-3-319-91785-6

  • eBook Packages: MedicineMedicine (R0)

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