Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
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 p...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2015/137368 |
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| author | M. M. G. Vollebregt A. Malfroot M. De Raedemaecker M. van der Burg J. E. van der Werff ten Bosch |
| author_facet | M. M. G. Vollebregt A. Malfroot M. De Raedemaecker M. van der Burg J. E. van der Werff ten Bosch |
| author_sort | M. M. G. Vollebregt |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dc3e24c3db24441c8bf4bbc17879c97d |
| institution | OA Journals |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-dc3e24c3db24441c8bf4bbc17879c97d2025-08-20T02:21:35ZengWileyCase Reports in Immunology2090-66092090-66172015-01-01201510.1155/2015/137368137368Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the LiteratureM. M. G. Vollebregt0A. Malfroot1M. De Raedemaecker2M. van der Burg3J. E. van der Werff ten Bosch4Department of Pediatrics, University Hospital Brussels, 1090 Brussels, BelgiumDepartment of Pediatrics, University Hospital Brussels, 1090 Brussels, BelgiumDepartment of Genetics, University Hospital Brussels, 1090 Brussels, BelgiumDepartment of Immunology, Erasmus MC, 3015 CN Rotterdam, NetherlandsDepartment of Pediatric Hematology, Oncology and Immunology, University Hospital Brussels, 1090 Brussels, BelgiumRapadilino 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.http://dx.doi.org/10.1155/2015/137368 |
| spellingShingle | M. M. G. Vollebregt A. Malfroot M. De Raedemaecker M. van der Burg J. E. van der Werff ten Bosch Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature Case Reports in Immunology |
| title | Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature |
| title_full | Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature |
| title_fullStr | Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature |
| title_full_unstemmed | Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature |
| title_short | Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature |
| title_sort | immunodeficiency in a child with rapadilino syndrome a case report and review of the literature |
| url | http://dx.doi.org/10.1155/2015/137368 |
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