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

Dominguez-Pinilla, NereaPerrig, Melina SoledadRodriguez Vigil-Iturrate, CarmenSalmón-Rodriguez, NereaMartinez Faci, CristinaCastro-Panete, María J.Blas-Espada, JavierLópez-Nevado, MartaRuiz-Garcia, RaquelChaparro-García, RebecaRecio Hoyas, María JoséAllende Martínez, Luis MiguelGonzález Granado, Luis Ignacio2024-01-112024-01-112019-01-07Recio 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;9:2959.1664-322410.3389/fimmu.2018.02959https://hdl.handle.net/20.500.14352/92613Cernunnos/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.engAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutationjournal articlehttps://www.frontiersin.org/journals/immunologyopen access612.017DNA repairNHEJ1 mutationXLF/CernunnosLymphomagenesisRadiosensitive SCID (RS-SCID)Severe Combined Immunodeficiency.Inmunología2412 Inmunología