Family studies of IgA deficiency

Seventeen immunoglobulin A (IgA)-deficient subjects and other members from 13 families were examined at HLA-A, B and DR, C4A, C4B, and Bf loci. Of the 29 independent haplotypes in the IgA-deficient subjects, 22 included deletions, duplications, or defects at the C4 or 21-hydroxylase loci. It is sugg...

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Bibliographic Details
Published in:Immunogenetics (New York) 1985-01, Vol.21 (4), p.333-342
Main Authors: WILTON, A. N, COBAIN, T. J, DAWKINS, R. L
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Complement C4 - genetics
Dysgammaglobulinemia - genetics
Dysgammaglobulinemia - immunology
Genes, Recessive
Genotype
HLA Antigens - genetics
Humans
IgA Deficiency
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunoglobulin A - genetics
Immunopathology
Medical sciences
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Summary:Seventeen immunoglobulin A (IgA)-deficient subjects and other members from 13 families were examined at HLA-A, B and DR, C4A, C4B, and Bf loci. Of the 29 independent haplotypes in the IgA-deficient subjects, 22 included deletions, duplications, or defects at the C4 or 21-hydroxylase loci. It is suggested that there may be a gene regulating serum IgA concentrations in this same region of chromosome 6. Three main supratypes explain most of the previously reported HLA associations with IgA deficiency. These are A1, Cw7, B8, C4AQ0, C4B1, BfS, DR3, Bw65(14), C4A2, C4B1/2, BfS, and Bw57(17), C4A6, C4B1, BfS. All three are proposed to carry a gene for IgA deficiency, while other supratypes carrying the same B allele generally do not. Other supratypes possibly associated with IgA deficiency were also identified. A survey of about 150 individuals with at least 1 of the 3 main supratypes revealed only 2 IgA-deficient subjects, and these were among the 20 that had 2 of these supratypes. This suggests the possibility of a recessive mode of inheritance, with penetrance determined by another factor which is not major histocompatibility complex-linked. All the supratypes found in this group of IgA-deficient subjects would then carry the putative recessive allele for IgA deficiency.
ISSN:0093-7711
1432-1211
DOI:10.1007/BF00430799