title: AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency.
abstract: 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.
  
  
  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.
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Hematology Department, School of Allied Medical Science, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: E
authors.initials: E
authors.lastname: Farhadi
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Nemati
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A A
authors.initials: AA
authors.lastname: Amirzargar
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Hirbod-Mobarakeh
authors.affiliation: Department of Allergy and Immunology, Rasool-e-Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Nabavi
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Soltani
authors.affiliation: Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: S A
authors.initials: SA
authors.lastname: Mahdaviani
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Shahinpour
authors.affiliation: Department of Allergy and Immunology, Rasool-e-Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Arshi
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: B
authors.initials: B
authors.lastname: Nikbin
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D017074:Common Variable Immunodeficiency / Q000235:genetics*; D003564:Cytidine Deaminase / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase
keywords: Activation induced cytidine deaminase; Common variable immunodeficiency; Genetic susceptibility; IgA deficiency; Single nucleotide polymorphism