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

• Principais autores: Sarah E. Henrickson (Autor), Joseph G. Dolan (Autor), Lisa R. Forbes (Autor), Alexander Vargas-Hernández (Autor), Shiho Nishimura (Autor), Satoshi Okada (Autor), Leslie S. Kersun (Autor), Garrett M. Brodeur (Autor), Jennifer R. Heimall (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...