Table 2

Monogenetic defects associated with or causing common variable immunodeficiency

Defect (gene, chromosome)

Frequency

Onset

Ig serum levels

Clinical symptoms


ICOS deficiency (ICOS, 2q33)

5 families, 11 patients

Late onset, early onset

IgG, A, M low

URI, LRI, GI, SP, LP, AI, SG

CD19 deficiency (CD19, 16p11.2)

6 families, 9 patients

Early onset

IgG and IgA low, IgM variable

URI, LRI, GI, SP, LP, AI, SG, GN

BAFFR deficiency (TNFRSF13C, 22q13.1-q13.31)

1 family, 2 patients

Late onset

IgG and IgM low, IgA normal

URI, LRI

CD81 deficiency (CD81, 11p15.5)

1 family, 1 patient

Early onset

IgG low, IgA and IgM normal

URI, LRI, GN

CD20 deficiency (CD20, 11q12)

1 family, 1 patient

Early onset

IgG low, IgA and IgM normal

URI

CD21 deficiency (CR2, 1q32)

1 family, 1 patient

Late onset

IgG and IgA low, IgM normal

URI, GI, SP

TACI (TNFRSF13B, 17p11.2)

About 8 to 10% of CVID patients

Late onset, early onset

IgG and IgA low, IgM variable

URI, LRI, GI, SP, AI, LP, SG

LRBA deficiency (LRBA, 4q31.3)

4 families, 5 patients

Early onset (<15 years)

IgG and IgA low, IgM variable

URI, LRI, AI, GI, SG


AI, autoimmunity (autoimmune hemolytic anemia, immune thrombocytopenic purpura, neutropenia); GI, gastrointestinal tract involvement (gastritis, celiac like disease, Crohn's like disease); GN, glomerulonephritis; LP, lymphoproliferation; LRI, lower respiratory tract infection (bronchitis, pneumonia); SG, sarkoid-like granulomatous disease; SP, splenomegaly; URI, upper respiratory tract infection (sinusitis, rhinitis, otitis media, pharyngitis).

Salzer et al. Arthritis Research & Therapy 2012 14:223   doi:10.1186/ar4032