Document Detail


Hereditary C2 deficiency associated with immune complex disease.
MedLine Citation:
PMID:  149533     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient presenting with a syndrome probably due to immune complex deposition was investigated and found to possess an inherited C2 complement deficiency. Family studies indicated that the deficiency was transmitted as an autosomal recessive trait. HLA typing for the HLA-A and HLA-B specificities and HLA-D specificities indicated a close linkage between the HLA and C2 genes, as has been described elsewhere. The HLA-A and B locus specificities HLA-AW25 and HLA-B18 were coded for by each of the two chromosomes carrying the C2(0) gene. However, the two chromosomes differed at the HLA-D locus, as one coded for HLA-DW2 whilst the other did not. This case, therefore, provides a unique haplotype and may be of importance in mapping the C2(0) locus, as it suggests that the gene order on chromosome 6 is HLA-D, C2(0), HLA-B, HLA-A. Extensive complement component assays indicated that utilization of complement in the patient was occurring via the alternate complement pathway. It is suggested that, as a result of the C2 deficiency, infections with viruses and other agents could lead to an immune complex disease due to an impaired capacity to effectively eliminate circulating complexes.
Authors:
A J McPherson; I McKenzie; P A Castaldi; G J Stewart
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Australian journal of experimental biology and medical science     Volume:  56     ISSN:  0004-945X     ISO Abbreviation:  Aust J Exp Biol Med Sci     Publication Date:  1978 Feb 
Date Detail:
Created Date:  1978-09-01     Completed Date:  1978-09-01     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0416662     Medline TA:  Aust J Exp Biol Med Sci     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  81-98     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Mapping
Complement C2 / deficiency*
Complement System Proteins / analysis
Female
HLA Antigens
Humans
Immune Adherence Reaction
Immune Complex Diseases / complications*,  immunology
Linkage (Genetics)
Pedigree
Chemical
Reg. No./Substance:
0/Complement C2; 0/HLA Antigens; 9007-36-7/Complement System Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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