Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
oleh: Maria J. Recio, Maria J. Recio, Nerea Dominguez-Pinilla, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Javier Blas-Espada, Marta López-Nevado, Marta López-Nevado, Raquel Ruiz-Garcia, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis M. Allende, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2019-01-01 |
Deskripsi
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.