Common variable immunodeficiency is associated with polymorphic markers in the human major histocompatibility complex
Details
Serval ID
serval:BIB_2C534F32B1C1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Common variable immunodeficiency is associated with polymorphic markers in the human major histocompatibility complex
Journal
Clinical and Experimental Immunology
ISSN
0009-9104 (Print)
Publication state
Published
Issued date
03/1991
Volume
83
Number
3
Pages
387-90
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Research Support, Non-U.S. Gov't --- Old month value: Mar
Abstract
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.
Keywords
Adolescent
Adult
Aged
Chromosome Deletion
Deoxyribonucleases, Type II Site-Specific
Female
HLA-DQ Antigens/genetics
HLA-DR Antigens/genetics
HLA-DR3 Antigen/genetics
Humans
Immunologic Deficiency Syndromes/*genetics/*immunology
Major Histocompatibility Complex/*genetics
Male
Middle Aged
Polymorphism, Restriction Fragment Length
Tumor Necrosis Factor-alpha/genetics
Pubmed
Web of science
Create date
25/01/2008 8:38
Last modification date
20/08/2019 13:11