4.6 Review

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

Journal

HUMAN GENETICS
Volume 139, Issue 6-7, Pages 783-794

Publisher

SPRINGER
DOI: 10.1007/s00439-020-02180-0

Keywords

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Funding

  1. Chang Gung Memorial Hospital [CMRPD1A0681-3, CORPD1F0041-3, CMRPD1F0171-3]
  2. Chang Gung Memorial Hospital (BMRP)
  3. Taiwan Ministry of Science and Technology [105-2628-B-182-002-MY3]
  4. German federal Ministry of Education and Research [PID NET-TPA5, 01GM1111D, 01GM1517E]

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Anti-cytokine autoantibodies may cause immunodeficiency and have been recently recognized as 'autoimmune phenocopies of primary immunodeficiencies' and are found in particular, but not exclusively in adult patients. By blocking the cytokine's biological function, patients with anti-cytokine autoantibodies may present with a similar clinical phenotype as the related inborn genetic disorders. So far, autoantibodies to interferon (IFN)-gamma, GM-CSF, to a group of TH-17 cytokines and to IL-6 have been found to be causative or closely associated with susceptibility to infection. This review compares infectious diseases associated with anti-cytokine autoantibodies with primary immunodeficiencies affecting similar cytokines or related pathways.

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