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

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

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

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.

ISSN: 1528-3658