Open AccessCommon variable immunodeficiency is associated with polymorphic markers in the human major histocompatibility complex
Author(s) -
HOWE H. S.,
SO A. K. L.,
FARRANT J.,
WEBSTER A. D. B.
Publication year - 1991
Publication title -
clinical & experimental immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.329
H-Index - 135
eISSN - 1365-2249
pISSN - 0009-9104
DOI - 10.1111/j.1365-2249.1991.tb05648.x
Subject(s) - c4a , major histocompatibility complex , restriction fragment length polymorphism , haplotype , biology , common variable immunodeficiency , immunology , human leukocyte antigen , allele , genetics , gene , null allele , immunogenetics , immunodeficiency , allele frequency , polymerase chain reaction , antigen , immune system , antibody
SUMMARY 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 factoralpha (TNF‐α) 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‐α. Our results suggest that genes present on an extended haplotype containing these three polymorphisms contribute to genetic susceptibility to CVI.