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Copyright © 2015 M. M. G. Vollebregt et al. 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.

Abstract

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.

Details

Title
Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
Author
Vollebregt, M M G; Malfroot, A; De Raedemaecker, M; van der Burg, M; J. E. van der Werff ten Bosch
Publication year
2015
Publication date
2015
Publisher
John Wiley & Sons, Inc.
ISSN
20906609
e-ISSN
20906617
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1681231931
Copyright
Copyright © 2015 M. M. G. Vollebregt et al. 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.