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.
Keywords:
DNA repair; NHEJ1 mutation; XLF/Cernunnos; lymphomagenesis; radiosensitive SCID (RS-SCID); severe combined immunodeficiency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Antibodies / blood
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B-Lymphocytes
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Child
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Codon, Nonsense
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DNA Breaks, Double-Stranded
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DNA End-Joining Repair / genetics
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DNA Repair Enzymes / deficiency*
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DNA Repair Enzymes / genetics*
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DNA-Binding Proteins / deficiency*
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DNA-Binding Proteins / genetics*
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Fibroblasts / radiation effects
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Follow-Up Studies
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Hematopoietic Stem Cell Transplantation
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Homozygote
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Humans
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Infant
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Intellectual Disability / diagnosis
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Lymphopenia / diagnosis
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Microcephaly / diagnosis
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Pedigree
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Phenotype*
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Radiation Tolerance
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Rare Diseases / diagnosis
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Rare Diseases / genetics*
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Rare Diseases / pathology
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Rare Diseases / therapy
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Severe Combined Immunodeficiency / diagnosis
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Severe Combined Immunodeficiency / genetics*
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Severe Combined Immunodeficiency / pathology
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Severe Combined Immunodeficiency / therapy
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T-Lymphocytes
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Treatment Outcome
Substances
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Antibodies
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Codon, Nonsense
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DNA-Binding Proteins
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NHEJ1 protein, human
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DNA Repair Enzymes