Journal of Clinical Immunology

, Volume 27, Issue 1, pp 95–100 | Cite as

CTLA-4 Gene Exon-1 +49 A/G Polymorphism: Lack of Association with Autoimmune Disease in Patients with Common Variable Immune Deficiency

  • Adina Kay Knight
  • Davide Serrano
  • Yaron Tomer
  • Charlotte Cunningham-RundlesEmail author

The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.


Common variable immune deficiency autoimmunity granuloma lymphoid hyperplasia 



Special thanks to Drs Li Zhang, Ulrich Salzar, Bodo Grimbacher, and Timothy Behrens for providing TACI sequencing data. This work was supported by grants from the National Institutes of Health, AI 101093, AI-467320, AI-48693 and NIAID Contract 03-22. Adina Kay Knight was supported in part by the AAAAI Clinical Fellowship Award.


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Copyright information

© Springer Science+Business Media, LLC 2006

Authors and Affiliations

  • Adina Kay Knight
    • 1
    • 2
  • Davide Serrano
    • 1
    • 3
  • Yaron Tomer
    • 4
  • Charlotte Cunningham-Rundles
    • 1
    • 5
    Email author
  1. 1.Mount Sinai School of Medicine, Departments of Clinical Immunology and EndocrinologyNew YorkUSA
  2. 2.Allergy and Immunology, LSU-HSCShreveportUSA
  3. 3.European Institute of Oncology Department of ChemopreventionMilanItaly
  4. 4.Division of EndocrinologyUniversity of Cincinnati College of MedicineCincinnatiUSA
  5. 5.Mount Sinai School of MedicineNew YorkUSA

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