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Table 1 Investigated candidate genes and analyzed families.

From: Screening of functional and positional candidate genes in families with common variable immunodeficiency

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

  1. IBD, sporadic CVID patients with symptoms of inflammatory bowel disease; NA, not applicable.