AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency

E. Farhadi, S. Nemati, A.A. Amirzargar, A. Hirbod-Mobarakeh, M. Nabavi, S. Soltani, S.A. Mahdaviani, S. Shahinpour, S. Arshi, B. Nikbin, A. Aghamohammadi, N. Rezaei

Pediatric Respiratory Diseases Research Centre, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Background: Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterised by increased susceptibility to recurrent bacterial infections. Common variable immunodeficiency (CVID) is the most important PAD from the clinical point of view and selective IgA deficiency (IgAD) is the most common PAD. However, the underlying gene defect in both is still unknown. As a recent study in Europe showed an association between a single nucleotide polymorphism (SNP) of AICDA gene with PADs, this study was performed to evaluate such an association in Iranian patients.

Materials and Methods: Fifty-eight patients with PAD, including 39 CVID and 19 IgAD, as well as 34 healthy volunteers, were enrolled in this study. Genotyping was done in all groups for an intronic SNP in AICDA (rs2580874), using real-time PCR genotyping assay.

Results: The less frequent genotype of AICDA in IgAD patients was AA, seen in 10.5% of the patients, which was much lower than the 30.8% in CVID patients and 38.2% in the controls. However, these differences were not significant. Indeed the GG genotype in the patients with PADs was seen in 20.7%, compared to 8.8% in the controls without any significant difference.

Conclusions: There was no significant association between the previously reported genetic variant of AICDA gene and the development of CVID or IgAD, but further multi-center studies are also needed.
Keywords: Common variable immunodeficiency; IgA deficiency; Genetic susceptibility; Single nucleotide polymorphism; Activation induced cytidine deaminase

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Allergol Immunopathol (Madr). 2014; 42(5):422-6.