ICOS deficiency
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
Biology
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
References
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