Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018;66:367–80.

Article  PubMed  Google Scholar 

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42:1508–20.

Article  PubMed  Google Scholar 

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. J Clin Immunol. 2022;42:1473–507.

Article  PubMed  PubMed Central  Google Scholar 

Mitchell MR, Urdinez L, Bernasconi AR, Danielian S, Katsikas MM, Sajaroff EO, et al. Cancer prevalence in children with inborn errors of immunity: report from a single institution. J Clin Immunol. 2024;44:138.

Article  PubMed  Google Scholar 

Neirinck J, Emmaneel A, Buysse M, Philippé J, Van Gassen S, Saeys Y, et al. The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: daily practice performance in a tertiary university hospital. Front Immunol. 2022;13:1–14.

Article  Google Scholar 

Seitz L, Gaitan D, Berkemeier CM, Berger CT, Recher M. Cluster analysis of flowcytometric immunophenotyping with extended T cell subsets in suspected immunodeficiency. Immun Inflamm Dis. 2023;11:e1106.

Article  PubMed  PubMed Central  Google Scholar 

Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic tools for inborn errors of human immunity (Primary immunodeficiencies and immune dysregulatory diseases). Curr Allergy Asthma Rep. 2018;18:19.

Article  PubMed  Google Scholar 

Kwon SS, Cho YK, Hahn S, Oh J, Won D, Shin S, et al. Genetic diagnosis of inborn errors of immunity using clinical exome sequencing. Front Immunol. 2023;14:1–10.

Google Scholar 

Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, et al. Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a monocentric study. Front Immunol. 2021;12:786516.

Article  PubMed  PubMed Central  Google Scholar 

Elsink K, van Montfrans JM, van Gijn ME, Blom M, van Hagen PM, Kuijpers TW, et al. Cost and impact of early diagnosis in primary immunodeficiency disease: a literature review. Clin Immunol. 2020;213:1–10.

Article  Google Scholar 

Mizutani S, Takagi M. XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. Int J Hematol. 2013;97:37–42.

Article  PubMed  Google Scholar 

Slatter MA, Gennery AR. Update on DNA-double strand break repair defects in combined primary immunodeficiency. Curr Allergy Asthma Rep. 2020;20:1–12.

Article  Google Scholar 

Morio T. Recent advances in the study of immunodeficiency and DNA damage response. Int J Hematol. 2017;106:357–65.

Article  PubMed  Google Scholar 

Zhao B, Rothenberg E, Ramsden DA, Lieber MR. The molecular basis and disease relevance of non-homologous DNA end joining. Nat Rev Mol Cell Biol. 2020;21:765–81.

Article  PubMed  PubMed Central  Google Scholar 

Woodbine L, Gennery AR, Jeggo PA. The clinical impact of deficiency in DNA non-homologous end-joining. DNA Repair (Amst). 2014;16:84–96.

Article  PubMed  Google Scholar 

Pastorczak A, Attarbaschi A, Bomken S, Borkhardt A, van der Werff ten Bosch J, Elitzur S, et al. Consensus recommendations for the clinical management of hematological malignancies in patients with DNA double stranded break disorders. Cancers (Basel). 2022;14:2000.

Fournier B, Mahlaoui N, Moshous D, de Villartay J. Inborn errors of immunity caused by defects in the DNA damage response pathways: importance of minimizing treatment-related genotoxicity. Pediatr Allergy Immunol. 2022;33:1–9.

Article  Google Scholar 

Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, et al. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol. 2018;141:322–8.

Article  PubMed  Google Scholar 

Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, et al. Current understanding and future research priorities in malignancy associated with inborn errors of immunity and DNA repair disorders: the perspective of an interdisciplinary working group. Front Immunol. 2018;9:1–10.

Sharma R, Lewis S, Wlodarski MW. DNA repair syndromes and cancer: insights into genetics and phenotype patterns. Front Pediatr. 2020;8:570084.

Article  PubMed  PubMed Central  Google Scholar 

Zhang X, Jiang W, Jin Z, Wang X, Song X, Huang S, et al. A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review. Front Oncol. 2023;13:1–7.

Google Scholar 

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, et al. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol. 2019;85:170–80.

Article  PubMed  PubMed Central  Google Scholar 

Felgentreff K, Lee YN, Frugoni F, Du L, Van Der Burg M, Giliani S, et al. Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. J Allergy Clin Immunol. 2015;136:140–50.

Article  PubMed  PubMed Central  Google Scholar 

Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, et al. The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. Clin Immunol. 2013;149:464–74.

Article  PubMed  Google Scholar 

Joubert A, Zimmerman KM, Bencokova Z, Gastaldo J, Chavaudra N, Favaudon V, et al. DNA double-strand break repair defects in syndromes associated with acute radiation response: at least two different assays to predict intrinsic radiosensitivity? Int J Radiat Biol. 2008;84:107–25.

Article  PubMed  Google Scholar 

Berthel E, Ferlazzo ML, Devic C, Bourguignon M, Foray N. What does the history of research on the repair of DNA double - strand breaks tell us?— A comprehensive review of human radiosensitivity. Int J Mol Sci. 2019;20:2–14.

Article  Google Scholar 

Takagi M, Hoshino A, Bousset K, Röddecke J, Martin HL, Folcut I, et al. Bone marrow failure and immunodeficiency associated with human RAD50 variants. J Clin Immunol. 2023;43:2136–45.

Article  PubMed  Google Scholar 

Zhang S, Pondarre C, Pennarun G, Labussiere-Wallet H, Vera G, France B, et al. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. J Exp Med. 2016;213:1011–28.

Article  PubMed  PubMed Central  Google Scholar 

Péron S, Pan-Hammarström Q, Imai K, Du L, Taubenheim N, Sanal O, et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med. 2007;204:1207–16.

Article  PubMed  PubMed Central  Google Scholar 

Chiriaco M, Ursu GM, Amodio D, Cotugno N, Volpi S, Berardinelli F, et al. Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait? Front Immunol. 2022;13:919237.

Article  PubMed  PubMed Central  Google Scholar 

Mozdarani H, Kiaee F, Fekrvand S, Azizi G, Yazdani R, Zaki-Dizaji M, et al. G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. Int J Radiat Biol. 2019;95:680–90.

Article  PubMed  Google Scholar 

Fekrvand S, Mozdarani H, Delavari S, Sohani M, Nazari F, Kiaee F, et al. Evaluation of radiation sensitivity in patients with hyper IgM syndrome. Immunol Invest. 2020;50:580–96.

Article  PubMed  Google Scholar 

Aghamohammadi A, Moin M, Kouhi A. Chromosomal radiosensitivity in patients with common variable immunodeficiency. Immunobiology. 2008;213:447–54.

Article  PubMed  Google Scholar 

Mahmoodi M, Abolhassani H, Mozdarani H, Rezaei N. In vitro chromosomal radiosensitivity in patients with common variable immunodeficiency. Clin Immunol. 2018;53:155–61.

Google Scholar 

Vorechovsky I, Scott D, Haeney MR, Webster DA. Chromosomal radiosensitivity in common variable immune deficiency. Mutat Res. 1993;290:255–64.

Article  PubMed  Google Scholar 

Palanduz S, Palanduz A, Yalcin I, Somer A. In Vitro chromosomal radiosensitivity in common variable immune deficiency. Clin Immunol Immunopathol. 1998;86:180–2.

Article  PubMed  Google Scholar 

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7:1763–70.

Fenech M. Cytokinesis-block micronucleus cytome assay. Nat Protoc. 2007;2:1084–104.

Article