Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings

Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish sib...

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Detalles Bibliográficos
Autores principales: Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Geffers, Robert, Enßen, Julia, Wieland, Britta, Bogdanova, Natalia Valerijevna, Dörk, Thilo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722808/
https://www.ncbi.nlm.nih.gov/pubmed/29255463
http://dx.doi.org/10.3389/fimmu.2017.01683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722808/
https://www.ncbi.nlm.nih.gov/pubmed/29255463
http://dx.doi.org/10.3389/fimmu.2017.01683

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