RT Journal Article
T1 Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
A1 Dominguez-Pinilla, Nerea
A1 Perrig, Melina Soledad
A1 Rodriguez Vigil-Iturrate, Carmen
A1 Salmón-Rodriguez, Nerea
A1 Martinez Faci, Cristina
A1 Castro-Panete, María J.
A1 Blas-Espada, Javier
A1 López-Nevado, Marta
A1 Ruiz-Garcia, Raquel
A1 Chaparro-García, Rebeca
A1 Recio Hoyas, María José
A1 Allende Martínez, Luis Miguel
A1 González Granado, Luis Ignacio
AB 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.
PB FRONTIERS MEDIA SA
SN 1664-3224
YR 2019
FD 2019-01-07
LK https://hdl.handle.net/20.500.14352/92613
UL https://hdl.handle.net/20.500.14352/92613
LA eng
NO 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.
NO FIS (Fondo de Investigación Sanitaria)
NO MINECO (Ministerio de Economía y competitividad)
NO CAM (Comunidad Autónoma de Madrid)
DS Docta Complutense
RD 13 abr 2025