Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma

In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the four patients with the T437N STAT1 mutation experienced lymphadenopathy. However, two of the children developed Nodular Lymphocyte Predominant H...

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Detalles Bibliográficos
Autores principales: Henrickson, Sarah E., Dolan, Joseph G., Forbes, Lisa R., Vargas-Hernández, Alexander, Nishimura, Shiho, Okada, Satoshi, Kersun, Leslie S., Brodeur, Garrett M., Heimall, Jennifer R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503099/
https://www.ncbi.nlm.nih.gov/pubmed/31114772
http://dx.doi.org/10.3389/fped.2019.00160

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503099/
https://www.ncbi.nlm.nih.gov/pubmed/31114772
http://dx.doi.org/10.3389/fped.2019.00160

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