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Table 1 Extended MHC analysis of immunodeficient members of the S12 family, individuals representative of various alleles of haplotype 1 not identical by descent from a recent common ancestor, and fragments of haplotype 1 present in parents of an informative family member homozygous for incomplete copies of the haplotype

From: Susceptibility Locus for IgA Deficiency and Common Variable Immunodeficiency in the HLA-DR3, -B8, -A1 Haplotypes

Gen Ind Diagnosis Copy DR D3A C4B C4A G11 Bf C2 HSP-70 9N1 822 821 823 TNF TNFα TNFb 62 M1B B A
II 11 CVID a 3 130 Sf(l) 0 15 0.4 a 7.5 98 122 91 155 5 a2 b3 151 272 8 1
II 10 pIgAD a 3 nd Sf(l) 0 15 0.4 a 7.5 nd nd nd nd 5 a2 b3 nd nd 8 1
II 28 CVID a 3 nd Sf(l) 0 15 0.4 a 7.5 nd nd nd nd 5 a2 b3 nd nd 8 1
III 26 CVID b 3 nd Sf(l) 0 15 0.4 a 7.5 nd nd nd nd 5 a2 b3 nd nd 8 1
II 11s Normal b 3 130 Sf(l) 0 15 0.4 a 7.5 98 122 91 155 5 a2 b3 151 272 8 1
III 2s Normal c 3 130 SF(1) 0 nd 0.4 a nd 98 122 91 155 nd a2 b3 151 272 8 1
III 21s Normal d 3 130 Sf(l) 0 nd 0.4 a nd 98 122 91 155 nd a2 b3 151 272 8 1
IV 37 IgAD d 3 nd Sf 0 nd 0.4 a nd nd nd nd nd nd a2 b3 nd nd nd nd
IV 35 pIgAD e 3 130 Sf(l) 0 nd 0.4 a nd 98 122 91 155 nd a2 b3 151 272 8 1
III 15s Normal f 3 130 Sf(l) 0 nd 0.4 a nd 98 122 91 155 nd a2 b3 151 272 8 1
III 9 IgAD g 3 nd Sf(l) 0 15 0.4 a 7.5 98 122 91 155 5 a2 b3 151 272 8 1
III 8s Normal h 3 nd Sf(l) 0 15 0.4 a 7.5 98 122 91 155 5 a2 b3 151 272 8 2
II 9s Normal χ 3 x 130 Sf(1) 0 nd 0.4 a nd 98 122 91 155 nd a2 b3 151 272 8 1
II 11 CVID χ 4 124 L(0) L(3) 4.5 0.6 a 9 102 126 103 155 5 a2 b3 151 272 8 1
II 10 pIgAD χ 4 nd L(0) L(3) 4.5 0.6 a 9 nd nd nd nd 5 a2 b3 nd nd 8 1
III 26 CVID χ 4 nd L(0) L(3) 4.5 0.6 a 9 nd nd nd nd 5 a2 b3 nd nd 8 1
II 5 Normal χ 4 nd L(0) L(3) nd 0.6 a nd 102 126 103 155 nd a2 b3 nd 272 8 1
III 12 Normal χ x 124 L(0) L(3) nd 0.6 a nd 102 126 103 155 nd a2 b3 151 272 nd nd
IV 25 IgAD χ 4 124 L(0) L(3) nd 0.6 a nd 102 126 103 155 nd a2 b3 151 272 8 1
IV 25 IgAD χ 2 4 124 L(1) L(3) nd 0.4 a nd 98 122 93 155 nd a2 b3 151 276 8 1
III 12s1 Normal χ 2 4 124 L(1) L(3) nd 0.4 a nd 98 122 93 155 nd a2 b3 151 276 8 1
  1. Gen, generation; Ind, individual; Copy, either an incomplete (fragment) or a complete copy of haplotype 1 identical by descent from a common ancestor. DR, HLA-DR; B, HLA-B; A, HLA-A; nd, not determined; DR x, neither DR3 nor DR7. Partial IgA deficiency is designated pIgAD. Shading indicates markers shared in common with the a copy of haplotype 1.