{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:17:13Z","timestamp":1789514233402,"version":"build-2803163510"},"reference-count":79,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T00:00:00Z","timestamp":1678406400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathogens"],"abstract":"<jats:p>DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. Consequently, the characteristics of the infections may vary from mild upper respiratory tract infections to severe, opportunistic, and even fatal infections with bacteria, viruses, or fungi. Here, infections in 15 rare and sporadic DNA repair defects that are associated with immunodeficiencies are discussed. Because of the rarity of some of these conditions, limited information is available regarding infectious complications.<\/jats:p>","DOI":"10.3390\/pathogens12030440","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T04:04:00Z","timestamp":1678680240000},"page":"440","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Infections in DNA Repair Defects"],"prefix":"10.3390","volume":"12","author":[{"given":"Yesim","family":"Yilmaz Demirdag","sequence":"first","affiliation":[{"name":"Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, CA 92617, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7422-1453","authenticated-orcid":false,"given":"Sudhir","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, CA 92617, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/em.22087","article-title":"Mechanisms of DNA damage, repair, and mutagenesis","volume":"58","author":"Chatterjee","year":"2017","journal-title":"Environ. Mol. Mutagen."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1146\/annurev.biochem.73.011303.073723","article-title":"Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints","volume":"73","author":"Sancar","year":"2004","journal-title":"Annu. Rev. Biochem."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.ajhg.2019.06.005","article-title":"DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging","volume":"105","author":"Tiwari","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1365-2249.2000.01257.x","article-title":"Immunodeficiency associated with DNA repair defects","volume":"121","author":"Gennery","year":"2000","journal-title":"Clin. Exp. Immunol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","article-title":"Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee","volume":"42","author":"Tangye","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1084\/jem.20080789","article-title":"Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination","volume":"205","author":"Peron","year":"2008","journal-title":"J. Exp. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1084\/jem.20151183","article-title":"A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly","volume":"213","author":"Zhang","year":"2016","journal-title":"J. Exp. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1136\/adc.2006.094268","article-title":"Survival probability in ataxia telangiectasia","volume":"91","author":"Crawford","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1146\/annurev.immunol.15.1.177","article-title":"The genetic defect in ataxia-telangiectasia","volume":"15","author":"Lavin","year":"1997","journal-title":"Annu. Rev. Immunol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.jpeds.2003.12.046","article-title":"Immunodeficiency and infections in ataxia-telangiectasia","volume":"144","author":"Crawford","year":"2004","journal-title":"J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.clim.2006.04.568","article-title":"Intact T cell responses in ataxia telangiectasia","volume":"120","author":"Pashankar","year":"2006","journal-title":"Clin. Immunol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"972952","DOI":"10.3389\/fped.2022.972952","article-title":"Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience","volume":"10","author":"Schwartzmann","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1080\/1744666X.2017.1292131","article-title":"The clinical significance of complete class switching defect in Ataxia telangiectasia patients","volume":"13","author":"Ghiasy","year":"2017","journal-title":"Expert Rev. Clin. Immunol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1136\/adc.2008.149351","article-title":"Ataxia-telangiectasia patients presenting with hyper-IgM syndrome","volume":"94","author":"Noordzij","year":"2009","journal-title":"Arch. Dis. Child."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1080\/08820139.2020.1723104","article-title":"Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients","volume":"50","author":"Amirifar","year":"2021","journal-title":"Immunol. Investig."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Petley, E., Yule, A., Alexander, S., Ojha, S., and Whitehouse, W.P. (2022). The natural history of ataxia-telangiectasia (A-T): A systematic review. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0264177"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cei.12262","article-title":"Immune deficiency in Ataxia-Telangiectasia: A longitudinal study of 44 patients","volume":"176","author":"Chopra","year":"2014","journal-title":"Clin. Exp. Immunol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1200\/JCO.2014.56.5101","article-title":"Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies","volume":"33","author":"Suarez","year":"2015","journal-title":"J. Clin. Oncol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(00)70106-5","article-title":"Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia","volume":"136","author":"Crawford","year":"2000","journal-title":"J. Pediatr."},{"key":"ref_20","first-page":"205","article-title":"Twenty-year follow-up of 160 patients with ataxia-telangiectasia","volume":"33","author":"Ersoy","year":"1991","journal-title":"Turk. J. Pediatr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/ppul.22817","article-title":"Infections of the respiratory system in patients with ataxia-telangiectasia","volume":"49","author":"Schroeder","year":"2014","journal-title":"Pediatr. Pulmonol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1002\/pbc.25621","article-title":"Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab","volume":"62","author":"Meister","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.1038\/s41598-022-08019-0","article-title":"Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India","volume":"12","author":"Rawat","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e114","DOI":"10.1097\/MPH.0b013e31829f3496","article-title":"Epstein-barr virus-associated extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT Lymphoma) arising in the parotid gland of a child with ataxia telangiectasia","volume":"37","author":"Bennett","year":"2015","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0022-3476(05)81795-0","article-title":"Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis","volume":"121","author":"Pohl","year":"1992","journal-title":"J. Pediatr."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10875-018-0581-0","article-title":"Rubella Virus-Associated Cutaneous Granulomatous Disease: A Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders","volume":"39","author":"Buchbinder","year":"2019","journal-title":"J. Clin. Immunol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000330335","article-title":"Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: Reflection of inappropriate immune regulation?","volume":"223","author":"Chiam","year":"2011","journal-title":"Dermatology"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1111\/pde.15032","article-title":"A case of wild-type rubella-associated cutaneous granuloma in ataxia telangiectasia","volume":"39","author":"Browne","year":"2022","journal-title":"Pediatr. Dermatol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00441871","article-title":"Ataxia telangiectasia with generalized skin pigmentation and early death","volume":"145","author":"Tsukahara","year":"1986","journal-title":"Eur. J. Pediatr."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"The International Nijmegen Breakage Syndrome Study Group (2000). Nijmegen breakage syndrome. Arch. Dis. Child., 82, 400\u2013406.","DOI":"10.1136\/adc.82.5.400"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/S0092-8674(00)81175-7","article-title":"The hMre11\/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response","volume":"93","author":"Carney","year":"1998","journal-title":"Cell"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1126\/science.1108297","article-title":"ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex","volume":"308","author":"Lee","year":"2005","journal-title":"Science"},{"key":"ref_33","first-page":"85","article-title":"Nijmegen breakage syndrome: Case report and review of literature","volume":"35","author":"Hasbaoui","year":"2020","journal-title":"Pan Afr. Med. J."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1046\/j.1365-2249.2002.01971.x","article-title":"Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: An 8-year follow-up study in a single centre","volume":"130","author":"Gregorek","year":"2002","journal-title":"Clin. Exp. Immunol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s10875-015-0186-9","article-title":"Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options\u2014A Retrospective Analysis","volume":"35","author":"Gregorek","year":"2015","journal-title":"J. Clin. Immunol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/INF.0b013e3181faa941","article-title":"Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis","volume":"30","author":"Erdos","year":"2011","journal-title":"Pediatr. Infect. Dis. J."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1067\/mpd.2002.122724","article-title":"Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in eight unrelated Russian families","volume":"140","author":"Resnick","year":"2002","journal-title":"J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/978-0-387-72005-0_6","article-title":"Nijmegen breakage syndrome","volume":"601","author":"Kondratenko","year":"2007","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.clim.2010.01.008","article-title":"Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy","volume":"135","author":"Gregorek","year":"2010","journal-title":"Clin. Immunol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/j.1600-0609.2007.00878.x","article-title":"The relationship of hepatitis B virus infection and non-Hodgkin\u2019s lymphoma and its impact on clinical characteristics and prognosis","volume":"79","author":"Lim","year":"2007","journal-title":"Eur. J. Haematol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1016\/j.tripleo.2009.06.032","article-title":"Oral findings in patients with Nijmegen breakage syndrome: A preliminary study","volume":"108","author":"Gregorek","year":"2009","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/0092-8674(95)90105-1","article-title":"The Bloom\u2019s syndrome gene product is homologous to RecQ helicases","volume":"83","author":"Ellis","year":"1995","journal-title":"Cell"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/S0165-4608(96)00336-6","article-title":"Bloom\u2019s syndrome. XX. The first 100 cancers","volume":"93","author":"German","year":"1997","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10875-017-0454-y","article-title":"Immunodeficiency in Bloom\u2019s Syndrome","volume":"38","author":"Schoenaker","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1651-2227.1992.tb12088.x","article-title":"Long-term study of the immunodeficiency of Bloom\u2019s syndrome","volume":"81","author":"Kondo","year":"1992","journal-title":"Acta Paediatr."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1136\/jmg.25.3.173","article-title":"Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: The ICF syndrome","volume":"25","author":"Maraschio","year":"1988","journal-title":"J. Med. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/ejhg.2013.40","article-title":"Heterogeneous clinical presentation in ICF syndrome: Correlation with underlying gene defects","volume":"21","author":"Weemaes","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"7870","DOI":"10.1038\/ncomms8870","article-title":"Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome","volume":"6","author":"Thijssen","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/s13023-014-0116-6","article-title":"Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)","volume":"9","author":"Ravindran","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/cge.12979","article-title":"Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2","volume":"92","author":"Thijssen","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"108453","DOI":"10.1016\/j.clim.2020.108453","article-title":"DNMT3B deficiency presenting as severe combined immune deficiency: A case report","volume":"215","author":"Mehawej","year":"2020","journal-title":"Clin. Immunol."},{"key":"ref_52","first-page":"85","article-title":"A case with ICF syndrome lost to rubella pneumonitis","volume":"47","author":"Reisli","year":"2005","journal-title":"Turk. J. Pediatr."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Thiffault, I., Saunders, C., Jenkins, J., Raje, N., Canty, K., Sharma, M., Grote, L., Welsh, H.I., Farrow, E., and Twist, G. (2015). A patient with polymerase E1 deficiency (POLE1): Clinical features and overlap with DNA breakage\/instability syndromes. BMC Med. Genet., 16.","DOI":"10.1186\/s12881-015-0177-y"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1084\/jem.20121303","article-title":"Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (\u201cFILS syndrome\u201d)","volume":"209","author":"Lemoine","year":"2012","journal-title":"J. Exp. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"933108","DOI":"10.3389\/fped.2022.933108","article-title":"Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome","volume":"10","author":"Jiang","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.ajhg.2018.10.024","article-title":"DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency","volume":"103","author":"Logan","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1002\/ajmg.a.35882","article-title":"X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature","volume":"161A","author":"Pezzani","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s10875-020-00953-w","article-title":"Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency","volume":"41","author":"Starokadomskyy","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/ni.3409","article-title":"DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis","volume":"17","author":"Starokadomskyy","year":"2016","journal-title":"Nat. Immunol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1525-1470.2005.22206.x","article-title":"X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review","volume":"22","author":"Anderson","year":"2005","journal-title":"Pediatr. Dermatol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/jmedgenet-2012-100803","article-title":"Recessive mutations in MCM4\/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair","volume":"49","author":"Casey","year":"2012","journal-title":"J. Med. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1172\/JCI60224","article-title":"MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans","volume":"122","author":"Hughes","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1172\/JCI61014","article-title":"Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency","volume":"122","author":"Gineau","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.celrep.2014.12.021","article-title":"RNF168 promotes noncanonical K27 ubiquitination to signal DNA damage","volume":"10","author":"Gatti","year":"2015","journal-title":"Cell Rep."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.3389\/fimmu.2017.01683","article-title":"Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings","volume":"8","author":"Pietrucha","year":"2017","journal-title":"Front. Immunol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1038\/cdd.2011.18","article-title":"Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia","volume":"18","author":"Devgan","year":"2011","journal-title":"Cell Death Differ."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/0092-8674(92)90450-Q","article-title":"Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents","volume":"69","author":"Barnes","year":"1992","journal-title":"Cell"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"5489","DOI":"10.1172\/JCI99629","article-title":"Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies","volume":"128","author":"Maffucci","year":"2018","journal-title":"J. Clin. Investig."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1033338","DOI":"10.3389\/fimmu.2022.1033338","article-title":"Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation","volume":"13","author":"Pastorczak","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s10875-020-00871-x","article-title":"Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency","volume":"41","author":"Silva","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"12685","DOI":"10.1073\/pnas.0705558104","article-title":"Crystal structure of the GINS complex and functional insights into its role in DNA replication","volume":"104","author":"Chang","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1172\/JCI90727","article-title":"Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency","volume":"127","author":"Cottineau","year":"2017","journal-title":"J. Clin. Investig."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1172\/JCI82890","article-title":"Destabilized SMC5\/6 complex leads to chromosome breakage syndrome with severe lung disease","volume":"126","author":"Hennus","year":"2016","journal-title":"J. Clin. Investig."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"5272","DOI":"10.1172\/JCI134966","article-title":"Human NK cell deficiency as a result of biallelic mutations in MCM10","volume":"130","author":"Mace","year":"2020","journal-title":"J. Clin. Investig."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.jaci.2015.06.049","article-title":"A novel mutation in the POLE2 gene causing combined immunodeficiency","volume":"137","author":"Frugoni","year":"2016","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1365-2249.2008.03684.x","article-title":"Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene","volume":"153","author":"Staples","year":"2008","journal-title":"Clin. Exp. Immunol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1007\/s10875-018-0569-9","article-title":"Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features","volume":"38","author":"Alghamdi","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1136\/jmg.2007.053397","article-title":"Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)","volume":"45","author":"Hagleitner","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"e1341","DOI":"10.1542\/peds.2007-0640","article-title":"Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome","volume":"120","author":"Gennery","year":"2007","journal-title":"Pediatrics"}],"container-title":["Pathogens"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-0817\/12\/3\/440\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:52:32Z","timestamp":1760122352000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-0817\/12\/3\/440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,10]]},"references-count":79,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["pathogens12030440"],"URL":"https:\/\/doi.org\/10.3390\/pathogens12030440","relation":{},"ISSN":["2076-0817"],"issn-type":[{"value":"2076-0817","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,10]]}}}