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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Detalles Bibliográficos
Autores principales: Vollebregt, M. M. G., Malfroot, A., De Raedemaecker, M., van der Burg, M., van der Werff ten Bosch, J. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438147/
https://www.ncbi.nlm.nih.gov/pubmed/26064716
http://dx.doi.org/10.1155/2015/137368

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438147/
https://www.ncbi.nlm.nih.gov/pubmed/26064716
http://dx.doi.org/10.1155/2015/137368

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