Skip to main content

Advertisement

SpringerLink
Log in

Mannose-binding lectin polymorphisms in common variable immunodeficiency

  • Original Article
  • Published:
Clinical and Experimental Medicine Aims and scope Submit manuscript

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to infections, autoimmunity and malignancies. This study was performed to analyze the Mannose-binding lectin (MBL) polymorphisms in Iranian patients with CVID. Thirty-five CVID patients who were treated at Children’s Medical Center and 100 matched controls were enrolled in this study. Sixth single-nucleotide polymorphisms of the MBL gene were analyzed using PCR–SSP method. Comparison of MBL exon 1 coding alleles between patients and controls revealed that A allele (wild-type) was significantly decreased in CVID group, whereas B allele was overrepresented in the patient group. High frequency of heterozygous (A/O) in the patient group and high frequency of homozygous for wild-type coding regions in the control group were detected. Comparison of MBL haplotype promoters between CVID patients and controls showed that LYPB haplotype was significantly overrepresented in the CVID group. Mutant and low-producing MBL alleles and haplotypes might reflect as an associated genetic factor in CVID patients, which could play as a susceptibility factor in CVID.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Cunningham-Rundles C, Bodian C (1999) Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92:34–48

    Article  PubMed  CAS  Google Scholar 

  2. Aghamohammadi A, Farhoudi A, Moin M et al (2005) Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency. Clin Diagn Lab Immunol 12:825–832

    PubMed  CAS  Google Scholar 

  3. Cunningham-Rundles C, Siegal FP, Cunningham-Rundles S et al (1987) Incidence of cancer in 98 patients with common varied immunodeficiency. J Clin Immunol 7:294–299

    Article  PubMed  CAS  Google Scholar 

  4. Knight AK, Cunningham-Rundles C (2006) Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 5:156–159

    Article  PubMed  CAS  Google Scholar 

  5. Bayry J, Hermine O, Webster DA et al (2005) Common variable immunodeficiency: the immune system in chaos. Trends Mol Med 11:370–376

    Article  PubMed  CAS  Google Scholar 

  6. Agematsu K, Futatani T, Hokibara S et al (2002) Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol 103:34–42

    Article  PubMed  CAS  Google Scholar 

  7. Warnatz K, Denz A, Drager R et al (2002) Severe deficiency of switched memory B cells (CD27(+)IgM(−)IgD(−)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99:1544–1551

    Article  PubMed  CAS  Google Scholar 

  8. Ko J, Radigan L, Cunningham-Rundles C (2005) Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 116:37–41

    Article  PubMed  CAS  Google Scholar 

  9. Vodjgani M, Aghamohammadi A, Samadi M et al (2007) The study of switched memory B cells in patients with common variable immunodeficiency and its clinical implications. J Investig Allergol Clin Immunol 17:321–328

    PubMed  CAS  Google Scholar 

  10. Bonhomme D, Hammarstrom L, Webster D et al (2000) Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency. J Immunol 165:4725–4730

    PubMed  CAS  Google Scholar 

  11. Rezaei N, Aghamohammadi A, Siadat SD et al (2008) Serum bactericidal antibody responses to meningococcal polysaccharide vaccination as a basis for clinical classification of common variable immunodeficiency. Clin Vaccine Immunol 15:607–611

    Article  PubMed  CAS  Google Scholar 

  12. Rezaei N, Aghamohammadi A, Siadat SD et al (2007) Serum bactericidal antibody response to serogroup C polysaccharide meningococcal vaccination in children with primary antibody deficiencies. Vaccine 25:5308–5314

    Article  PubMed  CAS  Google Scholar 

  13. Holm AM, Aukrust P, Damas JK et al (2005) Abnormal interleukin-7 function in common variable immunodeficiency. Blood 105:2887–2890

    Article  PubMed  CAS  Google Scholar 

  14. De Vera MJ, Al-Harthi L, Gewurz AT (2004) Assessing thymopoiesis in patients with common variable immunodeficiency as measured by T-cell receptor excision circles. Ann Allergy Asthma Immunol 93:478–484

    Article  PubMed  Google Scholar 

  15. Isgro A, Marziali M, Mezzaroma I et al (2005) Bone marrow clonogenic capability, cytokine production, and thymic output in patients with common variable immunodeficiency. J Immunol 174:5074–5081

    PubMed  CAS  Google Scholar 

  16. Rezaei N, Aghamohammadi A, Kardar GA et al (2008) T-helper 1 and 2 cytokines assay in patients with common variable immunodeficiency. J Investig Allergol Clin Immunol 18:449–453

    PubMed  CAS  Google Scholar 

  17. Rezaei N, Haji-Molla-Hoseini M, Aghamohammadi A et al (2008) Increased serum levels of soluble CD30 in patients with common variable immunodeficiency and its clinical implications. J Clin Immunol 28:78–84

    Article  PubMed  CAS  Google Scholar 

  18. Bayry J, Lacroix-Desmazes S, Kazatchkine MD et al (2004) Common variable immunodeficiency is associated with defective functions of dendritic cells. Blood 104:2441–2443

    Article  PubMed  CAS  Google Scholar 

  19. Scott-Taylor TH, Green MR, Eren E et al (2004) Monocyte derived dendritic cell responses in common variable immunodeficiency. Clin Exp Immunol 138:484–490

    Article  PubMed  CAS  Google Scholar 

  20. Cunningham-Rundles C, Radigan L (2005) Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin Immunol 115:147–153

    Article  PubMed  CAS  Google Scholar 

  21. Cambronero R, Sewell WA, North ME et al (2000) Up-regulation of IL-12 in monocytes: a fundamental defect in common variable immunodeficiency. J Immunol 164:488–494

    PubMed  CAS  Google Scholar 

  22. Nourizadeh M, Aghamohammadi A, Moazzeni SM et al (2007) High production of IL-18 by dendritic cells induced by sera from patients with primary antibody deficiency. Iran J Allergy Asthma Immunol 6:59–65

    PubMed  CAS  Google Scholar 

  23. Walport MJ (2001) Complement. First of two parts. N Engl J Med 344:1058–1066

    Article  PubMed  CAS  Google Scholar 

  24. Walport MJ (2001) Complement. Second of two parts. N Engl J Med 344:1140–1144

    Article  PubMed  CAS  Google Scholar 

  25. Turner MW (2003) The role of mannose-binding lectin in health and disease. Mol Immunol 40:423–429

    Article  PubMed  CAS  Google Scholar 

  26. Andersen P, Permin H, Andersen V et al (2005) Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency. Blood 105:511–517

    Article  PubMed  CAS  Google Scholar 

  27. Litzman J, Freiberger T, Grimbacher B et al (2008) Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. Clin Exp Immunol 153:324–330

    Article  PubMed  CAS  Google Scholar 

  28. Mullighan CG, Marshall SE, Welsh KI (2000) Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. Scand J Immunol 51:111–122

    Article  PubMed  CAS  Google Scholar 

  29. Conley ME, Notarangelo LD, Etzioni A (1999) Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93:190–197

    Article  PubMed  CAS  Google Scholar 

  30. Geha RS, Notarangelo LD, Casanova JL et al (2007) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776–794

    Article  PubMed  Google Scholar 

  31. Aghamohammadi A, Fiorini M, Moin M et al (2006) Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol 141:408–414

    Article  PubMed  CAS  Google Scholar 

  32. Di Renzo M, Pasqui AL, Auteri A (2004) Common variable immunodeficiency: a review. Clin Exp Med 3:211–217

    Article  PubMed  CAS  Google Scholar 

  33. Rezaei N, Amirzargar AA, Shakiba Y et al (2009) Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. Clin Exp Immunol 155:21–27

    Article  PubMed  CAS  Google Scholar 

  34. Soto ME, Cordera F, Reyes PA (2000) Congenital C2 (type I) deficiency associated with common variable immunodeficiency. Ann Intern Med 132:597

    PubMed  CAS  Google Scholar 

  35. Sanal O, Yel L, Tezcan I et al (1996) Homozygous C2 deficiency: association with defective alternative pathway function and immunoglobulin deficiency. Int Arch Allergy Immunol 110:195–198

    Article  PubMed  CAS  Google Scholar 

  36. Fevang B, Mollnes TE, Holm AM et al (2005) Common variable immunodeficiency and the complement system; low mannose-binding lectin levels are associated with bronchiectasis. Clin Exp Immunol 142:576–584

    PubMed  CAS  Google Scholar 

Download references

Conflict of interest statement

The authors declare that they have no conflict of interest related to the publication of this manuscript.

Author information

Authors and Affiliations

  1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran

    Asghar Aghamohammadi & Nima Rezaei

  2. Immunogenetic Laboratory, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Farshad Foroughi, Saeid Dianat, Ghasem Solgi & Ali Akbar Amirzargar

  3. Molecular Immunology Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Farshad Foroughi, Saeid Dianat, Ghasem Solgi & Ali Akbar Amirzargar

  4. Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Asghar Aghamohammadi & Nima Rezaei

Authors
  1. Asghar Aghamohammadi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Farshad Foroughi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Nima Rezaei
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Saeid Dianat
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ghasem Solgi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ali Akbar Amirzargar
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ali Akbar Amirzargar.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Aghamohammadi, A., Foroughi, F., Rezaei, N. et al. Mannose-binding lectin polymorphisms in common variable immunodeficiency. Clin Exp Med 9, 285–290 (2009). https://doi.org/10.1007/s10238-009-0049-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10238-009-0049-x

Keywords

Search

Navigation