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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| Main Authors: | M. M. G. Vollebregt, A. Malfroot, M. De Raedemaecker, M. van der Burg, J. E. van der Werff ten Bosch |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
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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