Journal of Clinical and Cellular Immunology
Open Access
ISSN: 2155-9899
+44 1223 790975
ISSN: 2155-9899
+44 1223 790975
De Malmanche T
Australia
Research Article
TNFRSF13B Variants in SLE and Immunodeficiency
Author(s): Chew GYJ, Gatenby PA, Mercan S, De Malmanche T, Adelstein S, Garsia R, Hissaria P, French MA, Riminton DS, Fulcher DA, Scorza R, D'Alfonso S, Doria A, Rúa Figueroa I, Cervera R, Vasconcelos C, Martins B, Alarcón Riquelme M, Vinuesa CG and Cook MCChew GYJ, Gatenby PA, Mercan S, De Malmanche T, Adelstein S, Garsia R, Hissaria P, French MA, Riminton DS, Fulcher DA, Scorza R, D'Alfonso S, Doria A, Rúa Figueroa I, Cervera R, Vasconcelos C, Martins B, Alarcón Riquelme M, Vinuesa CG and Cook MC
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 TNFR.. View More»
DOI:
10.4172/2155-9899.1000233