1. Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
- Author
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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, and Gonzalez-Granado LI
- Subjects
- Antibodies blood, B-Lymphocytes, Child, Codon, Nonsense, DNA Breaks, Double-Stranded, DNA End-Joining Repair genetics, Fibroblasts radiation effects, Follow-Up Studies, Hematopoietic Stem Cell Transplantation, Homozygote, Humans, Infant, Intellectual Disability diagnosis, Lymphopenia diagnosis, Microcephaly diagnosis, Pedigree, Radiation Tolerance, Rare Diseases diagnosis, Rare Diseases pathology, Rare Diseases therapy, Severe Combined Immunodeficiency diagnosis, Severe Combined Immunodeficiency pathology, Severe Combined Immunodeficiency therapy, T-Lymphocytes, Treatment Outcome, DNA Repair Enzymes deficiency, DNA Repair Enzymes genetics, DNA-Binding Proteins deficiency, DNA-Binding Proteins genetics, Phenotype, Rare Diseases genetics, Severe Combined Immunodeficiency genetics
- 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.
- Published
- 2019
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