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

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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Bibliographic Details
Main Authors: Sarah E. Henrickson, Joseph G. Dolan, Lisa R. Forbes, Alexander Vargas-Hernández, Shiho Nishimura, Satoshi Okada, Leslie S. Kersun, Garrett M. Brodeur, Jennifer R. Heimall
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Pediatrics
Subjects:
STAT1
Hodgkin lymphoma
gain-of-function
primary immunodeficiency
human immunology
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00160/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00160/full

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