{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:17:14Z","timestamp":1789514234105,"version":"build-2803163510"},"reference-count":13,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 2","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.7705\/biomedica.7414","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T15:50:52Z","timestamp":1736437852000},"page":"16-21","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":2,"title":["Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos\/XLF deficiency","Espectro de inmunodeficiencia grave asociada con la mutaci\u00f3n del gen NHEJ1: deficiencia de Cernunnos XLF"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1824-3434","authenticated-orcid":false,"given":"Ana Mar\u00eda","family":"Navarro","sequence":"first","affiliation":[{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5051-7460","authenticated-orcid":false,"given":"Gabriela","family":"Mantilla","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2371-0465","authenticated-orcid":false,"given":"Jorge Andr\u00e9s","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7753-6079","authenticated-orcid":false,"given":"Mario Fernando","family":"Unigarro","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0205-0389","authenticated-orcid":false,"given":"Alfonso","family":"Su\u00e1rez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica M\u00e9dica, Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Servicio de Gen\u00e9tica M\u00e9dica, Hospital Infantil Universitario de San Jos\u00e9, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-6711","authenticated-orcid":false,"given":"Mar\u00eda Claudia","family":"Ortega","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda y Alergolog\u00eda, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"},{"name":"Servicio de Inmunolog\u00eda y Alergolog\u00eda, Fundaci\u00f3n Universitaria Ciencias de la Salud - FUCS, Bogot\u00e1, D. C., Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"key":"141610","doi-asserted-by":"crossref","unstructured":"\u00c7ipe FE, Aydogmus C, Babayigit Hocaoglu A, Kilic M, Kaya GD, Yilmaz Gulec E. Cernunnos\/XLF deficiency: A syndromic primary immunodeficiency. Case Rep Pediatr. 2014;2014:1-4. https:\/\/doi.org\/10.1155\/2014\/614238","DOI":"10.1155\/2014\/614238"},{"key":"141611","doi-asserted-by":"crossref","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. Immunol. 2022;42:1473-507. https:\/\/doi.org\/10.1007\/s10875-022-01289-3","DOI":"10.1007\/s10875-022-01289-3"},{"key":"141612","unstructured":"Turul T, Tezcan I, Sanal O. Cernunnos deficiency: A case report. J Investig Allergol Clin Immunol. 2011;21:313-6."},{"key":"141613","doi-asserted-by":"crossref","unstructured":"Jamee M, Khakbazan Fard N, Fallah S, Golchehre Z, Fallahi M, Shamsian BS, et al. Cernunnos defect in an Iranian patient with T\u2212 B+ NK+ severe combined immunodeficiency: A case report and review of the literature. Mol Genet Genomic Med. 2022;10:1-14. https:\/\/doi.org\/10.1002\/mgg3.1990","DOI":"10.1002\/mgg3.1990"},{"key":"141614","doi-asserted-by":"crossref","unstructured":"Revy P, Malivert L, Villartay JP De. Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system. Curr Opin Allergy Clin Immunol. 2006;6:416-20. https:\/\/doi.org\/10.1097\/01.all.0000246623.72365.43","DOI":"10.1097\/01.all.0000246623.72365.43"},{"key":"141615","doi-asserted-by":"crossref","unstructured":"Dvorak CC, Cowan MJ. Radiosensitive severe combined immunodeficiency disease. Immunol Allergy Clin North Am. 2010;30:125-42. https:\/\/doi.org\/10.1016\/j.iac.2009.10.004","DOI":"10.1016\/j.iac.2009.10.004"},{"key":"141616","doi-asserted-by":"crossref","unstructured":"Buck D, Malivert LD, Regina B, Fondaneche A, Sanal MC, Ozden PA, et al. Cernunnos a novel non-homologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006;124:287-99. https:\/\/doi.org\/10.1016\/j.cell.2005.12.030","DOI":"10.1016\/j.cell.2005.12.030"},{"key":"141617","doi-asserted-by":"crossref","unstructured":"Fayez EA, Qazvini FF, Mahmoudi SM, Khoei S, Vesaltalab M, Teimourian S. Diagnosis of radiosensitive severe combined immunodeficiency disease (RS-SCID) by comet assay, management of bone marrow transplantation. Immunobiology. 2020;225:1-6. https:\/\/doi.org\/10.1016\/j.imbio.2020.151961","DOI":"10.1016\/j.imbio.2020.151961"},{"key":"141618","doi-asserted-by":"crossref","unstructured":"Roch B, Abramowski V, Chaumeil J, Devillartay JP. Cernunnos\/XLF deficiency results in suboptimal V(D)J recombination and impaired lymphoid development in mice. Front Immunol. 2019;10:1-12. https:\/\/doi.org\/10.3389\/fimmu.2019.00443","DOI":"10.3389\/fimmu.2019.00443"},{"key":"141619","doi-asserted-by":"crossref","unstructured":"Slatter MA, Gennery AR. Update on DNA-double strand break repair defects in combined primary immunodeficiency. Curr Allergy Asthma Rep. 2020;20:1-12. https:\/\/doi.org\/10.1007\/s11882-020-00955-z","DOI":"10.1007\/s11882-020-00955-z"},{"key":"141620","doi-asserted-by":"crossref","unstructured":"Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, et al. Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 2010;31:1059-68. https:\/\/doi.org\/10.1002\/humu.21315","DOI":"10.1002\/humu.21315"},{"key":"141621","doi-asserted-by":"crossref","unstructured":"Recio MJ, Dom\u00ednguez-Pinilla N, Perrig MS, Vigil-Iturrate CR, Salm\u00f3n-Rodr\u00edguez N, Faci CM, et al. Extreme phenotypes with identical mutations: Two patients with same nonsense NHEJ1 homozygous mutation. Front Immunol. 2019;9:1-8. https:\/\/doi.org\/10.3389\/fimmu.2018.02959","DOI":"10.3389\/fimmu.2018.02959"},{"key":"141622","doi-asserted-by":"crossref","unstructured":"\u00c7a\u01e7da\u015f D, \u00d6zg\u00fcr TT, Asal GT, Revy P, De Villartay JP, van Der Burg M, et al. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. Pediatr Transplant. 2012;16:1-5. https:\/\/doi.org\/10.1111\/j.1399-3046.2011.01491.x","DOI":"10.1111\/j.1399-3046.2011.01491.x"}],"container-title":["Biom\u00e9dica"],"original-title":[],"link":[{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/download\/7414\/5559","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/download\/7414\/5723","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/download\/7414\/5559","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T13:20:48Z","timestamp":1773321648000},"score":1,"resource":{"primary":{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/view\/7414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,23]]},"references-count":13,"journal-issue":{"issue":"Sp. 2","published-online":{"date-parts":[[2024,12,23]]}},"URL":"https:\/\/doi.org\/10.7705\/biomedica.7414","relation":{},"ISSN":["2590-7379","0120-4157"],"issn-type":[{"value":"2590-7379","type":"electronic"},{"value":"0120-4157","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,23]]},"assertion":[{"value":"2024-12-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}},{"value":"Yes","order":0,"name":"peer_reviewed","label":"Peer Reviewed","group":{"name":"peer_review","label":"Peer Review"}},{"value":"Instituto Nacional de Salud","name":"publisher","label":"This article is maintained by"},{"value":"Biomedica","name":"journaltitle","label":"Journal Title"},{"value":"Presentaci\u00f3n de caso","name":"content_type","label":"Content Type"}]}}