alexa TNFRSF13B Variants in SLE and Immunodeficiency
ISSN: 2155-9899

Journal of Clinical & Cellular Immunology
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Research Article

TNFRSF13B Variants in SLE and Immunodeficiency

Chew GYJ1-3, Gatenby PA1*, Mercan S4, De Malmanche T5, Adelstein S6, Garsia R6, Hissaria P7, French MA8, Riminton DS9, Fulcher DA10, Scorza R11, D'Alfonso S12, Doria A13, Rúa Figueroa I14, Cervera R15, Vasconcelos C16, Martins B16, Alarcón Riquelme M17,18, Vinuesa CG2 and Cook MC1,2
1Department of Immunology, Canberra Hospital, Australia
2John Curtin School of Medical Research, Australian National University, Australia
3Graduate School of Medicine, University of Wollongong, Australia
4Department of Genetics, Research Institute of Medical Experiment, Istanbul University, Turkey & Department of Bioengineering, Faculty of Engineering and Architecture, Kafkas University, Turkey
5HAPS Immunology, Newcastle, Australia
6Department of Immunology, Royal Prince Alfred Hospital, Sydney, Australia
7Department of Human Immunology, SA Pathology & Clinical Immunology and Allergy, Royal Adelaide Hospital, Australia
8Department of Clinical Immunology and Path West Laboratory Medicine, Royal Perth Hospital, Perth, Australia & School of Pathology and Laboratory Medicine, University of Western Australia, Australia
9Department of Immunology, Concord Hospital, Concord, Australia
10Department of Immunopathology, Westmead Hospital, Westmead, Australia
11University of Milan, Milan, Italy
12Department of Health Sciences and IRCAD, University of Eastern Piedmont, Novara, Italy
13Division of Rheumatology, University of Padova, Padova, Italy
14Servicio de Reumatología, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Spain
15Department of Autoimmune Diseases, Hospital Clínic, Barcelona, Catalonia, Spain
16Centro Hospitalar do Porto/Hospital Santo Antonio and UMIB/ICBAS, Porto, Portugal
17Department of Human DNA Variability, GENYO, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada—Junta de Andalucía, Granada, Spain
18Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma, OK, USA
Corresponding Author : Professor Paul A Gatenby
Department of Immunology
Canberra Hospital, Australia
Tel: 61 2 6244 3955
Received March 10, 2014; Accepted July 09, 2014; Published July 16, 2014
Citation: Chew GYJ, Gatenby PA, Mercan S, De Malmanche T, Adelstein S, et al. (2014) TNFRSF13B Variants in SLE and Immunodeficiency. J Clin Cell Immunol 5:233. doi:10.4172/2155-9899.1000233
Copyright: © 2014 Chew GYJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Background: The co-existence of autoimmunity and primary antibody deficiency in some individiuals is intriguing. The transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) gene (TNFRSF13B) has been implicated in both autoimmunity and primary antibody deficiency to varying extents in mice and humans. However, the phenotype described in mice with TNFRSF13B polymorphisms has not been entirely consistent with patients with similar orthologous polymorphisms.

Objective: To further understand the relationship between TNFRSF13B variants and PAD and autoimmunity, we set out to determine the association of the two most common TNFRSF13B polymorphisms with autoimmunity and immunodeficiency, in patients with primary antibody deficiency and SLE.

Method: We genotyped the C104R and A181E polymorphisms of TNFRSF13B in193 individuals and 144 controls from the Australian and New Zealand Antibody Deficiency Allele (ANZADA) Study, 107 patients from the Australian Point Mutation in Systemic Lupus Erythematosus (APOSLE) study, 169 patients with SLE from a European population, and 263 European controls. We were also able to determine TNFRSF13B genotypes for family members for nine of twelve pedigrees with primary antibody deficiency identified with TNFRSF13B variants.

Results: The total number of TNFRSF13B variants in the primary antibody deficiency cohort was significantly higher than in the control group (p=0.0089; OR 9.481 [95% CI 1.218−73.81]). Similar results were obtained when patients with systemic lupus erythematosus were analysed. TNFRSF13B variants were strongly associated with SLE (p=0.0161, OR 3.316 [95% CI 1.245-8.836]). Familial analysis revealed incomplete penetrance of the TNFRSF13B variants.

Conclusion: Taken together, the two most common TNFRSF13B variants are associated with primary antibody deficiency and systemic lupus erythematosus.


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