Gene | Chromosomal location | Exons | Markers used for genotyping | Linkage-positive CVID families for the respective locus | Autosomal recessive CVID families | # of sporadic CVID patients |
---|---|---|---|---|---|---|
BCMA/TNFRSF17 | 16p13.1 11.9 Mb–12.0 Mb | 3 | D16S423, D16S407, D16S405 | cv22, cv72, cv73, cv91, cv128, cv135, cv136 | fr6, fr16, fr17, fr19, fr20, fr21, fr22, fr23, fr24, cv32 | 50 |
APRIL/TNFSF13 | 17p13.1 7.4 Mb | 6 | D17S513, D17S786 | cv73, cv97, cv137 | fr6, fr17, fr18, fr20, fr21, fr22, fr23, fr24, fr27 | NA |
IL10 | 1q31-q32 205 Mb | 5 | D1S1660, D1S1678, D1S1663, D1S2141, D1S229 | cv73, cv77, cv125, cv128, cv136 | fr6, fr16–fr26, fr28 | 5 (IBD) |
IL10RA | 11q23.3 117.3 Mb–117.4 Mb | 7 | D11S927, D11S925, D11S934 | cv18, cv53, cv72, cv75, cv136 | fr6, fr16–fr23, fr25, fr26, cv32 | 5 (IBD) |
IL10RB | 21q22.11 33.5 Mb–33.6 Mb | 7 | D21S265, D21S65, D21S219, D21S270, D21S167 | cv4, cv22, cv32, cv75, cv80, cv128 | fr6, fr16, fr17, fr18 | 4 (IBD) |
IL21 | 4q26-q27 123.7 Mb–123.8 Mb | 5 | D4S430, D4S427 | cv4, cv52, cv53, cv59, cv74, cv135 | fr6, fr16–fr26, fr28–fr33, cv32 | NA |
IL21R | 16p11 27.3 Mb–27.4 Mb | 9 | D16S420, D16S261, D16S411 | cv4, cv22, cv72, cv77, cv137 | fr6, fr16–fr26, fr28–fr33, cv32 | NA |
CCL18 | 17q11.2 31.4 Mb | 3 | D17S798, D17S250 | cv18, cv78, cv80, cv93, cv125, cv136 | fr6, fr16–fr26, fr28 | NA |