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TWEAK Deficiency

  • Ulrich SalzerEmail author
Chapter
Part of the Rare Diseases of the Immune System book series (RDIS)

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.

Keywords

TWEAK TNF ligand B cells T cells 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Faculty of Medicine, Department of Rheumatology and Clinical ImmunologyMedical Center—University of FreiburgFreiburg im BreisgauGermany
  2. 2.Faculty of Medicine, Center for Chronic Immunodeficiency (CCI)Medical Center—University of FreiburgFreiburg im BreisgauGermany

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