Document Detail

Common variable immunodeficiency is associated with polymorphic markers in the human major histocompatibility complex.
MedLine Citation:
PMID:  1672269     Owner:  NLM     Status:  MEDLINE    
Common variable immunodeficiency (CVI) is a heterogeneous condition characterized by arrest in B cell differentiation. A high frequency of null alleles of the C4 gene has been reported in patients with this disorder. We investigated the restriction fragment length polymorphisms (RFLP) of the MHC class II genes HLA-DRB, DQA, and DQB, the class III gene C4 and the tumour necrosis factor-alpha) (TNF-alpha) gene in 40 Caucasian patients. The results showed an increase in HLA-DR3 in patients (40% vs 30.5%), but, more significantly, there was a striking increase in the number of CVI patients who carried a deletion of the C4A gene (46% vs 25%). In both patients and controls there was strong allelic association between HLA-DR3 and C4A deletion, and HLA-DR3 and TNF-alpha. Our results suggest that genes present on an extended haplotype containing these three polymorphisms contribute to genetic susceptibility to CVI.
H S Howe; A K So; J Farrant; A D Webster
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical and experimental immunology     Volume:  83     ISSN:  0009-9104     ISO Abbreviation:  Clin. Exp. Immunol.     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-04-19     Completed Date:  1991-04-19     Revised Date:  2010-08-25    
Medline Journal Info:
Nlm Unique ID:  0057202     Medline TA:  Clin Exp Immunol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  387-90     Citation Subset:  IM    
Rheumatology Unit, Royal Postgraduate Medical School, London, UK.
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MeSH Terms
Chromosome Deletion
Deoxyribonucleases, Type II Site-Specific
HLA-DQ Antigens / genetics
HLA-DR Antigens / genetics
HLA-DR3 Antigen / genetics
Immunologic Deficiency Syndromes / genetics*,  immunology*
Major Histocompatibility Complex / genetics*
Middle Aged
Polymorphism, Restriction Fragment Length
Tumor Necrosis Factor-alpha / genetics
Grant Support
//Wellcome Trust
Reg. No./Substance:
0/HLA-DQ Antigens; 0/HLA-DR Antigens; 0/HLA-DR3 Antigen; 0/Tumor Necrosis Factor-alpha; EC 3.1.21.-/endodeoxyribonuclease NcoI; EC, Type II Site-Specific

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

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