AUTHOR=Recio Maria J. , Dominguez-Pinilla Nerea , Perrig Melina Soledad , Rodriguez Vigil-Iturrate Carmen , Salmón-Rodriguez Nerea , Martinez Faci Cristina , Castro-Panete María J. , Blas-Espada Javier , López-Nevado Marta , Ruiz-Garcia Raquel , Chaparro-García Rebeca , Allende Luis M. , Gonzalez-Granado Luis Ignacio 

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

JOURNAL=Frontiers in Immunology

VOLUME=9

YEAR=2019

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2018.02959

DOI=10.3389/fimmu.2018.02959

ISSN=1664-3224

ABSTRACT=<p>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 mutation in the <italic>NHEJ1</italic> gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.</p>