Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency.

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Mutations in the TNFRSF 13 B (TACI ) gene have been associated with common variable immunodeficiency , and a role in immunoglobulin A deficiency (IgAD ) has also been suggested . We aimed at studying the role of several polymorphisms along this gene in IgAD susceptibility . Three TNFRSF 13 B mutations (C 104 R , A 181 E and R 202 H ) and eight additional single nucleotide polymorphisms in the gene were genotyped in 338 Spanish IgAD patients and 553 ethnically matched healthy controls and tested for association . Data from parents of 114 IgAD patients were also collected and used for additional analysis . No statistically significant differences were observed after comparing patients and controls for any single nucleotide polymorphism analysed . Therefore , our work seems to discard a role of TNFRSF 13 B mutations in IgAD , concordantly with the most recent published studies .