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Case Reports in Immunology
Volume 2015, Article ID 137368, 4 pages
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.


Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.