Maria J Recio Nerea Dominguez-Pinilla Melina Soledad Perrig Carmen Rodriguez Vigil-Iturrate Nerea Salmón-Rodriguez Cristina Martinez Faci María J Castro-Panete Javier Blas-Espada Marta López-Nevado Raquel Ruiz-Garcia Rebeca Chaparro-García Luis M Allende Luis Ignacio Gonzalez-Granado
10.3389/fimmu.2018.02959
Front Immunol
2019 Jan 7;9:2959.
dna repair nhej1 mutation xlf/cernunnos lymphomagenesis radiosensitive scid (rs-scid) severe combined immunodeficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/30666249/
DNA Repair Enzymes / deficiency DNA Repair Enzymes / genetics DNA-Binding Proteins / deficiency DNA-Binding Proteins / genetics Phenotype Rare Diseases / genetics Severe Combined Immunodeficiency / genetics
DNA Repair Enzymes / deficiency DNA Repair Enzymes / genetics DNA-Binding Proteins / deficiency DNA-Binding Proteins / genetics Phenotype Rare Diseases / genetics Severe Combined Immunodeficiency / genetics Case Reports Research Support, Non-U.S. Gov't 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 Antibodies Codon, Nonsense DNA-Binding Proteins NHEJ1 protein, human DNA Repair Enzymes
PMC6330288
30666249
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
2019