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Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
Joint Authors
Vollebregt, M. M. G.
Malfroot, A.
De Raedemaecker, M.
van der Werff ten Bosch, J. E.
van der Burg, Mirjam
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-06
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Vollebregt, M. M. G.& Malfroot, A.& De Raedemaecker, M.& van der Burg, Mirjam& van der Werff ten Bosch, J. E.. 2015. Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. Case Reports in Immunology،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058669
Modern Language Association (MLA)
Vollebregt, M. M. G.…[et al.]. Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. Case Reports in Immunology No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058669
American Medical Association (AMA)
Vollebregt, M. M. G.& Malfroot, A.& De Raedemaecker, M.& van der Burg, Mirjam& van der Werff ten Bosch, J. E.. Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. Case Reports in Immunology. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058669
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058669