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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330288/
https://www.ncbi.nlm.nih.gov/pubmed/30666249
http://dx.doi.org/10.3389/fimmu.2018.02959
Descripción
Sumario: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.

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