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

• Main Authors: Sarah E. Henrickson (Author), Joseph G. Dolan (Author), Lisa R. Forbes (Author), Alexander Vargas-Hernández (Author), Shiho Nishimura (Author), Satoshi Okada (Author), Leslie S. Kersun (Author), Garrett M. Brodeur (Author), Jennifer R. Heimall (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...