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Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency

Alper, CA; Xu, JH; Cosmopoulos, K; Dolinski, B; Stein, R; Uko, G; Larsen, CE; Dubey, DP; Densen, P and Truedsson, Lennart LU , et al. (2003) In Journal of Clinical Immunology 23(4). p.297-305
Abstract
About 25% of C2-deficient homozygotes have increased susceptibility to severe bacterial infections. C2-deficient homozygotes had significantly lower serum levels of IgG2, IgG4, IgD, and Factor B, significantly higher levels of IgA and IgG3 and levels of IgG1 and IgM similar to controls. Type I ( 28 bp deletion in C2 exon 6 on the [HLA-B18, S042, DR2] haplotype or its fragments) and type II ( non-type I) C2-deficient patients with increased susceptibility to bacterial infection had significantly lower mean levels of IgG4 ( p < 0.04) and IgA ( p < 0.01) than those without infections ( who had a higher than normal mean IgA level) but similar mean levels of other immunoglobulins and Factor B. Of 13 C2-deficient homozygotes with... (More)
About 25% of C2-deficient homozygotes have increased susceptibility to severe bacterial infections. C2-deficient homozygotes had significantly lower serum levels of IgG2, IgG4, IgD, and Factor B, significantly higher levels of IgA and IgG3 and levels of IgG1 and IgM similar to controls. Type I ( 28 bp deletion in C2 exon 6 on the [HLA-B18, S042, DR2] haplotype or its fragments) and type II ( non-type I) C2-deficient patients with increased susceptibility to bacterial infection had significantly lower mean levels of IgG4 ( p < 0.04) and IgA ( p < 0.01) than those without infections ( who had a higher than normal mean IgA level) but similar mean levels of other immunoglobulins and Factor B. Of 13 C2-deficient homozygotes with infections, 85% had IgG4 deficiency, compared with 64% of 25 without infections. IgD deficiency was equally extraordinarily common among infection-prone (50%) and noninfection-prone (70%) homozygous type I C2-deficient patients. IgD deficiency was also common (35%) among 31 type I C2-deficient heterozygotes ( with normal or type II haplotypes), but was not found in 5 type II C2-deficient heterozygotes or 1 homozygote. Thus, C2 deficiency itself is associated with many abnormalities in serum immunoglobulin levels, some of which, such as in IgG4 and IgA, may contribute to increased susceptibility to infection. In contrast, IgD deficiency appears not to contribute to increased infections and appears to be a dominant trait determined by a gene or genes on the extended major histocompatibility complex (MHC) haplotype [HLA-B18, S042, DR2] ( but probably not on type II C2-deficient haplotypes) similar to those previously identified on [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3]. (Less)
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publication status
published
subject
keywords
MHC, C2 deficiency, immunodeficiency diseases, infection
in
Journal of Clinical Immunology
volume
23
issue
4
pages
297 - 305
publisher
Springer
external identifiers
  • wos:000183857000007
  • pmid:12959222
  • scopus:10744229857
ISSN
0271-9142
DOI
10.1023/A:1024540917593
language
English
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yes
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11d44652-d3db-4e71-8f8b-85a8274cf41a (old id 307179)
date added to LUP
2007-08-22 10:12:47
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2018-05-29 11:54:10
@article{11d44652-d3db-4e71-8f8b-85a8274cf41a,
  abstract     = {About 25% of C2-deficient homozygotes have increased susceptibility to severe bacterial infections. C2-deficient homozygotes had significantly lower serum levels of IgG2, IgG4, IgD, and Factor B, significantly higher levels of IgA and IgG3 and levels of IgG1 and IgM similar to controls. Type I ( 28 bp deletion in C2 exon 6 on the [HLA-B18, S042, DR2] haplotype or its fragments) and type II ( non-type I) C2-deficient patients with increased susceptibility to bacterial infection had significantly lower mean levels of IgG4 ( p &lt; 0.04) and IgA ( p &lt; 0.01) than those without infections ( who had a higher than normal mean IgA level) but similar mean levels of other immunoglobulins and Factor B. Of 13 C2-deficient homozygotes with infections, 85% had IgG4 deficiency, compared with 64% of 25 without infections. IgD deficiency was equally extraordinarily common among infection-prone (50%) and noninfection-prone (70%) homozygous type I C2-deficient patients. IgD deficiency was also common (35%) among 31 type I C2-deficient heterozygotes ( with normal or type II haplotypes), but was not found in 5 type II C2-deficient heterozygotes or 1 homozygote. Thus, C2 deficiency itself is associated with many abnormalities in serum immunoglobulin levels, some of which, such as in IgG4 and IgA, may contribute to increased susceptibility to infection. In contrast, IgD deficiency appears not to contribute to increased infections and appears to be a dominant trait determined by a gene or genes on the extended major histocompatibility complex (MHC) haplotype [HLA-B18, S042, DR2] ( but probably not on type II C2-deficient haplotypes) similar to those previously identified on [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3].},
  author       = {Alper, CA and Xu, JH and Cosmopoulos, K and Dolinski, B and Stein, R and Uko, G and Larsen, CE and Dubey, DP and Densen, P and Truedsson, Lennart and Sturfelt, Gunnar and Sjöholm, Anders},
  issn         = {0271-9142},
  keyword      = {MHC,C2 deficiency,immunodeficiency diseases,infection},
  language     = {eng},
  number       = {4},
  pages        = {297--305},
  publisher    = {Springer},
  series       = {Journal of Clinical Immunology},
  title        = {Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency},
  url          = {http://dx.doi.org/10.1023/A:1024540917593},
  volume       = {23},
  year         = {2003},
}