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#