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Case Reports in Immunology
Volume 2015, Article ID 137368, 4 pages
http://dx.doi.org/10.1155/2015/137368
Case Report

Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature

1Department of Pediatrics, University Hospital Brussels, 1090 Brussels, Belgium
2Department of Genetics, University Hospital Brussels, 1090 Brussels, Belgium
3Department of Immunology, Erasmus MC, 3015 CN Rotterdam, Netherlands
4Department of Pediatric Hematology, Oncology and Immunology, University Hospital Brussels, 1090 Brussels, Belgium

Received 3 February 2015; Accepted 31 March 2015

Academic Editor: Jiri Litzman

Copyright © 2015 M. M. G. Vollebregt 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. H. A. Siitonen, O. Kopra, H. Kääriäinen et al., “Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases,” Human Molecular Genetics, vol. 12, no. 21, pp. 2837–2844, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. L. de Somer, C. Wouters, M.-A. Morren et al., “Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report,” Orphanet Journal of Rare Diseases, vol. 5, no. 1, article 37, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. L. Larizza, G. Roversi, and L. Volpi, “Rothmund-thomson syndrome,” Orphanet Journal of Rare Diseases, vol. 5, no. 1, article 2, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. L. van Maldergem, “Baller-Gerold syndrome,” in GeneReviews, R. A. Pagon, M. P. Adam, T. D. Bird, C. R. Dolan, C. T. Fong, and K. Stephens, Eds., University of Washington, Seattle, Wash, USA, 2007. View at Google Scholar
  5. J. G. Noordzij, N. S. Verkaik, M. van der Burg et al., “Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow,” Blood, vol. 101, no. 4, pp. 1446–1452, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. A. H. Siitonen, J. Sotkasiira, M. Biervliet et al., “The mutation spectrum in RECQL4 diseases,” European Journal of Human Genetics, vol. 17, no. 2, pp. 151–158, 2009. View at Publisher · View at Google Scholar · View at Scopus
  7. C. Wehr, T. Kivioja, C. Schmitt et al., “The Euroclass trial: defining subgroups in common variable immunodeficiency,” Blood, vol. 111, no. 1, pp. 77–85, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. T. Dietschy, I. Shevelev, and I. Stagljar, “The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress,” Cellular and Molecular Life Sciences, vol. 64, no. 7-8, pp. 796–802, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. D. L. Croteau, M. L. Rossi, J. Ross et al., “RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity,” Biochimica et Biophysica Acta—Molecular Basis of Disease, vol. 1822, no. 11, pp. 1727–1734, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. A. R. Gennery, A. J. Cant, and P. A. Jeggo, “Immunodeficiency associated with DNA repair defects,” Clinical and Experimental Immunology, vol. 121, no. 1, pp. 1–7, 2000. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Kubota, M. Yasunaga, H. Hashimoto et al., “IgG4 deficiency with Rothmund-Thomson syndrome: a case report,” European Journal of Pediatrics, vol. 152, no. 5, pp. 406–408, 1993. View at Publisher · View at Google Scholar · View at Scopus
  12. T. Ito, Y. Tokura, S. I. Moriwaki et al., “Rothmund-Thomson syndrome with herpes encephalitis,” European Journal of Dermatology, vol. 9, no. 5, pp. 354–356, 1999. View at Google Scholar · View at Scopus
  13. M. A. Broom, L. L. Wang, S. K. Otta et al., “Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency,” Clinical Genetics, vol. 69, no. 4, pp. 337–343, 2006. View at Publisher · View at Google Scholar · View at Scopus
  14. P. Reix, J. Derelle, H. Levrey-Hadden, H. Plauchu, and G. Bellon, “Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome,” Pediatrics International, vol. 49, no. 1, pp. 118–120, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. N. M. Lindor, Y. Furuichi, S. Kitao, A. Shimamoto, C. Arndt, and S. Jalal, “Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome,” American Journal of Medical Genetics, vol. 90, no. 3, pp. 223–228, 2000. View at Publisher · View at Google Scholar · View at Scopus
  16. R. P. Larson, S. Shafiani, and K. B. Urdahl, “Foxp3(+) regulatory T cells in tuberculosis,” Advances in Experimental Medicine and Biology, vol. 783, pp. 165–180, 2013. View at Publisher · View at Google Scholar
  17. Y. Morimoto and J. M. Routes, “Granulomatous disease in common variable immunodeficiency,” Current Allergy and Asthma Reports, vol. 5, no. 5, pp. 370–375, 2005. View at Publisher · View at Google Scholar · View at Scopus
  18. L. J. Mechanic, S. Dikman, and C. Cunningham-Rundles, “Granulomatous disease in common variable immunodeficiency,” Annals of Internal Medicine, vol. 127, no. 8, pp. 613–617, 1997. View at Publisher · View at Google Scholar · View at Scopus
  19. L. Y. T. Chiam, M. M. M. Verhagen, A. Haraldsson et al., “Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?” Dermatology, vol. 223, no. 1, pp. 13–19, 2011. View at Publisher · View at Google Scholar · View at Scopus
  20. S. G. Golombek, S. Brook, L. T. Clement, M. Begleiter, and W. E. Truog, “Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise?” Southern Medical Journal, vol. 91, no. 10, pp. 966–969, 1998. View at Publisher · View at Google Scholar · View at Scopus