Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
Loading...
Download
Official URL
Full text at PDC
Publication date
2019
Advisors (or tutors)
Editors
Journal Title
Journal ISSN
Volume Title
Publisher
FRONTIERS MEDIA SA
Citations
Exportar
Citation
Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI. Front Immunol. 2019 Jan 7;9:2959.
Abstract
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 NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.