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QJM Advance Access published online on June 13, 2005

QJM, doi:10.1093/qjmed/hci086
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© The Author 2005. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received January 12, 2005
Revised April 6, 2005

Original papers

Immune response genes in the post-Q-fever fatigue syndrome, Q fever endocarditis and uncomplicated acute primary Q fever

K. Helbig 1, R. Harris 1, J. Ayres 2, H. Dunckley 3, A. Lloyd 4, J. Robson 5, and B. Marmion 1*

1 From the Q fever Research Group IMVS and Hanson Institute, Adelaide, Australia
2 From the Department of Environmental and Occupational Medicine, University of Aberdeen, Aberdeen, UK
3 From the Tissue Typing, Australian Red Cross Blood Service and Research Unit of Transfusion Medicine and Immunogenetics, University of Sydney, Sydney, Australia
4 From the Medical Sciences, University of New South Wales, Sydney, Australia
5 From the Sullivan and Nicolaides Pathology, Brisbane, Australia


   Abstract

Background: The influence of immune response gene variations on the development of chronic complications of Q fever is presently unclear.

Aim: To compare the frequencies of allelic polymorphisms in immune response genes in different Q fever patient groups.

Design: Genetic association study.

Methods: We measured the frequencies of immune response gene variants in: (i) an expanded group of 31 post-Q-fever fatigue patients (QFS); (ii) 22 Q fever endocarditis patients (QFE); and (iii) 22 patients who made an uncomplicated recovery from their initial attack of primary acute Q fever, comparing them with various standard control panels from the general population.

Results: There were significant differences between the three Q fever groups. QFS patients differed from both QFE and uncomplicated patients and controls in the frequency of carriage of HLA-DRB1*11 and of the 2/2 genotype of the interferon-{gamma} intron1 microsatellite. Carriage of the HLA DRB1*11 allele was associated with reduced interferon-{gamma} and IL-2 responses from PBMC stimulated with ligand in short-term culture. QFE showed differences in the IL-10 promoter microsatellites R and G and had higher frequencies of the TNF-{alpha} receptor II 196R polymorphism. Q fever patients who had made an uncomplicated recovery differed from those with QFS or QFE, but were not significantly different in allelic frequencies to the control panels.

Discussion: These immunogenetic differences support the concept of different immune states in chronic Q fever, determined by genetic variations in host immune responses, rather than by solely properties of Coxiella burnetii.


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