Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mut...

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Bibliographic Details
Main Authors: Maria J. Recio, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Marta López-Nevado, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis Ignacio Gonzalez-Granado
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Immunology
Subjects:
XLF/Cernunnos
NHEJ1 mutation
DNA repair
severe combined immunodeficiency
lymphomagenesis
radiosensitive SCID (RS-SCID)
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02959/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.02959/full

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