Table of Contents Author Guidelines Submit a Manuscript
Journal of Immunology Research
Volume 2014 (2014), Article ID 683160, 12 pages
http://dx.doi.org/10.1155/2014/683160
Research Article

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

1Department of Allergy and Immunology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
2Department of Nephrology and Rheumatology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
3Division of Allergy and Immunology, Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA
4Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China

Received 27 May 2014; Accepted 31 July 2014; Published 20 August 2014

Academic Editor: Catharina Schuetz

Copyright © 2014 Lin-Lin Wang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. N. Qamar and R. L. Fuleihan, “The hyper IgM syndromes,” Clinical Reviews in Allergy and Immunology, vol. 46, no. 2, pp. 120–130, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. A. R. Hayward, J. Levy, F. Facchetti et al., “Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM,” The Journal of Immunology, vol. 158, no. 2, pp. 977–983, 1997. View at Google Scholar · View at Scopus
  3. R. C. Allen, R. J. Armitage, M. E. Conley et al., “CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome,” Science, vol. 259, no. 5097, pp. 990–993, 1993. View at Publisher · View at Google Scholar · View at Scopus
  4. A. Aruffo, M. Farrington, D. Hollenbaugh et al., “The CD40 ligand, gp39, is defective in activated t cells from patients with X-linked hyper-IgM syndrome,” Cell, vol. 72, no. 2, pp. 291–300, 1993. View at Publisher · View at Google Scholar · View at Scopus
  5. J. P. DiSanto, J. Y. Bonnefoy, J. F. Gauchat, A. Fischer, and G. de Saint Basile, “CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM,” Nature, vol. 361, no. 6412, pp. 541–543, 1993. View at Publisher · View at Google Scholar · View at Scopus
  6. R. Fuleihan, N. Ramesh, F. S. Rosen, and R. S. Geha, “Localization of the genetic defect in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1) to the CD40 ligand gene,” Transactions of the Association of American Physicians, vol. 106, pp. 91–95, 1993. View at Google Scholar · View at Scopus
  7. U. Korthauer, D. Graf, H. W. Mages et al., “Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM,” Nature, vol. 361, no. 6412, pp. 539–541, 1993. View at Publisher · View at Google Scholar · View at Scopus
  8. A. C. Grammer, M. C. Bergman, Y. Miura, K. Fujita, L. S. Davis, and P. E. Lipsky, “The CD40 ligand expressed by human B cells costimulates B cell responses,” The Journal of Immunology, vol. 154, no. 10, pp. 4996–5010, 1995. View at Google Scholar · View at Scopus
  9. A. Chatzigeorgiou, M. Lyberi, G. Chatzilymperis, A. Nezos, and E. Kamper, “CD40/CD40L signaling and its implication in health and disease,” BioFactors, vol. 35, no. 6, pp. 474–483, 2009. View at Publisher · View at Google Scholar · View at Scopus
  10. U. Schönbeck and P. Libby, “The CD40/CD154 receptor/ligand dyad,” Cellular and Molecular Life Sciences, vol. 58, no. 1, pp. 4–43, 2001. View at Google Scholar · View at Scopus
  11. G. Van Kooten and J. Banchereau, “CD40-CD40 ligand,” Journal of Leukocyte Biology, vol. 67, no. 1, pp. 2–17, 2000. View at Google Scholar · View at Scopus
  12. E. G. Davies and A. J. Thrasher, “Update on the hyper immunoglobulin M syndromes,” British Journal of Haematology, vol. 149, no. 2, pp. 167–180, 2010. View at Publisher · View at Google Scholar · View at Scopus
  13. E. van Hoeyveld, P. X. Zhang, K. de Boeck, R. Fuleihan, and X. Bossuyt, “Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L,” Immunology, vol. 120, no. 4, pp. 497–501, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. L. D. Notarangelo, M. Duse, and A. G. Ugazio, “Immunodeficiency with hyper-IgM (HIM),” Immunodeficiency Reviews, vol. 3, no. 2, pp. 101–121, 1991. View at Google Scholar · View at Scopus
  15. L. D. Notarangelo, M. C. Peitsch, T. G. Abrahamsen et al., “CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome,” Immunology Today, vol. 17, no. 11, pp. 511–516, 1996. View at Publisher · View at Google Scholar · View at Scopus
  16. J. Levy, T. Espanol-Boren, C. Thomas et al., “Clinical spectrum of X-linked hyper-IgM syndrome,” Journal of Pediatrics, vol. 131, part 1, no. 1, pp. 47–54, 1997. View at Publisher · View at Google Scholar · View at Scopus
  17. J. A. Winkelstein, M. C. Marino, H. Ochs et al., “The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients,” Medicine, vol. 82, no. 6, pp. 373–384, 2003. View at Publisher · View at Google Scholar · View at Scopus
  18. S. Nonoyama, M. Shimadzu, H. Toru et al., “Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome,” Human Genetics, vol. 99, no. 5, pp. 624–627, 1997. View at Publisher · View at Google Scholar · View at Scopus
  19. O. Cabral-Marques, S. Klaver, L. F. Schimke et al., “First report of the hyper-IgM syndrome registry of the latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes,” Journal of Clinical Immunology, vol. 34, no. 2, pp. 146–156, 2014. View at Publisher · View at Google Scholar
  20. K. Seyama, S. Nonoyama, I. Gangsaas et al., “Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome,” Blood, vol. 92, no. 7, pp. 2421–2434, 1998. View at Google Scholar · View at Scopus
  21. Q. Lin, J. Rohrer, R. C. Allen et al., “A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome,” The Journal of Clinical Investigation, vol. 97, no. 1, pp. 196–201, 1996. View at Publisher · View at Google Scholar · View at Scopus
  22. A. S. Levey and J. Coresh, “Chronic kidney disease,” The Lancet, vol. 379, no. 9811, pp. 165–180, 2012. View at Publisher · View at Google Scholar · View at Scopus
  23. O. Cabral-Marques, L. Schimke, P. V. S. Pereira et al., “Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in brazilian patients,” The Journal of Clinical Immunology, vol. 32, no. 2, pp. 212–220, 2012. View at Publisher · View at Google Scholar · View at Scopus
  24. S. Norouzi, A. Aghamohammadi, S. Mamishi, S. D. Rosenzweig, and N. Rezaei, “Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases,” Journal of Infection, vol. 64, no. 6, pp. 543–554, 2012. View at Publisher · View at Google Scholar · View at Scopus
  25. W. J. Tang, Y. F. An, R. X. Dai et al., “Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1,” Human Immunology, vol. 75, no. 7, pp. 633–640, 2014. View at Google Scholar
  26. M. Madkaikar, M. Gupta, S. Chavan et al., “X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India,” Blood Cells, Molecules & Diseases, 2014. View at Google Scholar
  27. Global Tuberculosis Report, “Global Tuberculosis Report 2013,” http://www.who.int/tb/publications/global_report/en/.
  28. T. Hayashi, S. P. Rao, P. R. Meylan, R. S. Kornbluth, and A. Catanzaro, “Role of CD40 ligand in Mycobacterium avium infection,” Infection and Immunity, vol. 67, no. 7, pp. 3558–3565, 1999. View at Google Scholar · View at Scopus
  29. G. M. Klug-Micu, S. Stenger, A. Sommer et al., “CD40 ligand and interferon-γ induce an antimicrobial response against Mycobacterium tuberculosis in human monocytes,” Immunology, vol. 139, no. 1, pp. 121–128, 2013. View at Publisher · View at Google Scholar · View at Scopus
  30. M. Carneiro-Sampaio and A. Coutinho, “Immunity to microbes: lessons from primary immunodeficiencies,” Infection and Immunity, vol. 75, no. 4, pp. 1545–1555, 2007. View at Publisher · View at Google Scholar · View at Scopus
  31. A. Jain, T. P. Atkinson, P. E. Lipsky, J. E. Slater, D. L. Nelson, and W. Strober, “Defects of T-cell effector function and post-thymic maturation in X- linked hyper-IgM syndrome,” Journal of Clinical Investigation, vol. 103, no. 8, pp. 1151–1158, 1999. View at Publisher · View at Google Scholar · View at Scopus
  32. W. Lee, T. R. Torgerson, M. J. Schumacher, L. Yel, Q. Zhu, and H. D. Ochs, “Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome,” Blood, vol. 105, no. 5, pp. 1881–1890, 2005. View at Publisher · View at Google Scholar · View at Scopus
  33. W. I. Lee, J. L. Huang, K. W. Yeh et al., “Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype,” Pediatric Infectious Disease Journal, vol. 32, no. 9, pp. 1010–1016, 2013. View at Publisher · View at Google Scholar · View at Scopus
  34. A. Vargas-Hernández, L. Berrón-Ruiz, T. Staines-Boone et al., “Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome,” Clinical Genetics, vol. 83, no. 6, pp. 585–587, 2013. View at Publisher · View at Google Scholar · View at Scopus
  35. M. A. García-Pérez, E. Paz-Artal, A. Corell et al., “Mutations of CD40 ligand in two patients with hyper-IgM syndrome,” Immunobiology, vol. 207, no. 4, pp. 285–294, 2003. View at Publisher · View at Google Scholar · View at Scopus
  36. S. Weller, A. Faili, C. Garcia et al., “CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans,” Proceedings of the National Academy of Sciences of the United States of America, vol. 98, no. 3, pp. 1166–1170, 2001. View at Publisher · View at Google Scholar · View at Scopus
  37. A. Villa, L. D. Notarangelo, J. P. Di Santo et al., “Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis,” Proceedings of the National Academy of Sciences of the United States of America, vol. 91, no. 6, pp. 2110–2114, 1994. View at Publisher · View at Google Scholar · View at Scopus
  38. J. Thusberg and M. Vihinen, “The structural basis of hyper IgM deficiency—CD40L mutations,” Protein Engineering, Design and Selection, vol. 20, no. 3, pp. 133–141, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. A. Aghamohammadi, N. Parvaneh, N. Rezaei et al., “Clinical and laboratory findings in Hyper-IgM syndrome with novel CD40L and AICDA mutations,” Journal of Clinical Immunology, vol. 29, no. 6, pp. 769–776, 2009. View at Publisher · View at Google Scholar · View at Scopus
  40. H. Piirilä, J. Väliaho, and M. Vihinen, “Immunodeficiency mutation databases (IDbases),” Human Mutation, vol. 27, no. 12, pp. 1200–1208, 2006. View at Publisher · View at Google Scholar · View at Scopus
  41. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  42. J. M. Schwarz, C. Rödelsperger, M. Schuelke, and D. Seelow, “MutationTaster evaluates disease-causing potential of sequence alterations,” Nature Methods, vol. 7, no. 8, pp. 575–576, 2010. View at Publisher · View at Google Scholar · View at Scopus
  43. S. Danielian, M. Oleastro, M. Eva Rivas, C. Cantisano, and M. Zelazko, “Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called “milder” mutants,” Journal of Clinical Immunology, vol. 27, no. 4, pp. 455–459, 2007. View at Publisher · View at Google Scholar · View at Scopus
  44. K. C. Gilmour, D. Walshe, S. Heath et al., “Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM,” Molecular Pathology, vol. 56, no. 5, pp. 256–262, 2003. View at Google Scholar
  45. A. Rangel-Santos, V. L. Wakim, C. M. Jacob et al., “Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations,” Scandinavian Journal of Immunology, vol. 69, no. 2, pp. 169–173, 2009. View at Google Scholar
  46. CD40Lbase, 2011, http://structure.bmc.lu.se/idbase/CD40Lbase/index.php.