Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency
Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The...
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| Format: | Article |
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Instituto Nacional de Salud
2024-12-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
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| Online Access: | https://revistabiomedica.org/index.php/biomedica/article/view/7414 |
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| author | Ana María Navarro Gabriela Mantilla Jorge Andrés Fernández Mario Fernando Unigarro Alfonso Suárez María Claudia Ortega |
| author_facet | Ana María Navarro Gabriela Mantilla Jorge Andrés Fernández Mario Fernando Unigarro Alfonso Suárez María Claudia Ortega |
| author_sort | Ana María Navarro |
| collection | DOAJ |
| description | Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast’s excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.
This manuscript aims to present an extremely rare case of combined immunodeficiency in a twenty-years-old man with non-consanguineous parents and a homozygote variant of the NHEJ1 gene. This case is the fiftieth reported in the literature and the first in Colombia, given the low prevalence of NHEJ1-related immunodeficiency and its difficult diagnosis due to scarce knowledge. |
| format | Article |
| id | doaj-art-913034e5101849948bc104f030e17504 |
| institution | Kabale University |
| issn | 0120-4157 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Biomédica: revista del Instituto Nacional de Salud |
| spelling | doaj-art-913034e5101849948bc104f030e175042025-01-21T18:56:10ZengInstituto Nacional de SaludBiomédica: revista del Instituto Nacional de Salud0120-41572024-12-0144Sp. 2162110.7705/biomedica.74148869Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiencyAna María Navarro0https://orcid.org/0009-0009-1824-3434Gabriela Mantilla1https://orcid.org/0000-0001-5051-7460Jorge Andrés Fernández2https://orcid.org/0000-0002-2371-0465Mario Fernando Unigarro3https://orcid.org/0000-0002-7753-6079Alfonso Suárez4https://orcid.org/0009-0002-0205-0389María Claudia Ortega5https://orcid.org/0000-0002-0644-6711Hospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaHospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaHospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaHospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaServicio de Genética Médica, Hospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaServicio de Inmunología y Alergología, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., ColombiaCernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast’s excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells. This manuscript aims to present an extremely rare case of combined immunodeficiency in a twenty-years-old man with non-consanguineous parents and a homozygote variant of the NHEJ1 gene. This case is the fiftieth reported in the literature and the first in Colombia, given the low prevalence of NHEJ1-related immunodeficiency and its difficult diagnosis due to scarce knowledge.https://revistabiomedica.org/index.php/biomedica/article/view/7414severe combined immunodeficiencydna end-joining repairimmunogeneticsgeneticshereditysyndrome |
| spellingShingle | Ana María Navarro Gabriela Mantilla Jorge Andrés Fernández Mario Fernando Unigarro Alfonso Suárez María Claudia Ortega Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency Biomédica: revista del Instituto Nacional de Salud severe combined immunodeficiency dna end-joining repair immunogenetics genetics heredity syndrome |
| title | Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency |
| title_full | Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency |
| title_fullStr | Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency |
| title_full_unstemmed | Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency |
| title_short | Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency |
| title_sort | severe immunodeficiency spectrum associated with nhej1 gene mutation cernunnos xlf deficiency |
| topic | severe combined immunodeficiency dna end-joining repair immunogenetics genetics heredity syndrome |
| url | https://revistabiomedica.org/index.php/biomedica/article/view/7414 |
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