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ICOS deficiency

Tuesday 8 March 2005

Adult-onset CVID of autosomal recessive inheritance caused by mutations in the inducible costimulator gene (ICOS) (MIM.605448)

- recurrent bacterial infections

  • acute sinusitis
  • acute otitis media
  • conjunctivitis
  • recurrent infectious pneumonia
  • bronchiectasis
  • digestive infection

- lymphadenopathy


- Low plasma cells number in bone marrow
- Normal numbers of T cells
- Variable degree of T cell dysfunction
- Low numbers of surface immunoglobulin positive B cells
- Markedly reduced IgA levels
- Markedly reduced IgG levels
- Reduced IgM levels


- Grimbacher, B.; Hutloff, A.; Schlesier, M.; Glocker, E.; Warnatz, K.; Drager, R.; Eibel, H.; Fischer, B.; Schaffer, A. A.; Mages, H. W.; Kroczek, R. A.; Peter, H. H. : Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nature Immun. 4: 261-268, 2003. PMID: 12577056

- Witsch, E. J.; Peiser, M.; Hutloff, A.; Buchner, K.; Dorner, B. G.; Jonuleit, H.; Mages, H. W.; Kroczek, R. A. : ICOS and CD28 reversely regulate IL-10 on re-activation of human effector T cells with mature dendritic cells. Europ. J. Immun. 32: 2680-2686, 2002. PMID: 12207353