IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

We describe a 2 year old boy with two previously undescribed frameshift mutations in the interferon (IFN)α/β receptor 2 (IFNAR2) gene presenting with hemophagocytic lymphohistiocytosis (HLH) following measles-mumps-rubella vaccination. Functional analyses show the absence of response to type I IFN i...

Full description

Bibliographic Details
Main Authors: Chiara Passarelli, Adele Civino, Marianna N. Rossi, Loredana Cifaldi, Valentina Lanari, Gian Marco Moneta, Ivan Caiello, Claudia Bracaglia, Raffaele Montinaro, Antonio Novelli, Fabrizio De Benedetti, Giusi Prencipe
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
hemophagocityc lymphohistiocytosis
interferon
IFNAR2
NK cells
clinical exome
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00937/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00937/full

Similar Items