Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis

Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018;141(4):1450–8. https://doi.org/10.1016/j.jaci.2017.06.049.

Article  CAS  PubMed  Google Scholar 

Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, et al. Comprehensive genetic results for primary immunodeficiency disorders in a highly consanguineous population. Front Immunol. 2019. https://doi.org/10.3389/fimmu.2018.03146.

Article  PubMed  PubMed Central  Google Scholar 

Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol. 2016;137(6):1780–7. https://doi.org/10.1016/j.jaci.2015.12.1310.

Article  CAS  PubMed  Google Scholar 

Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, et al. Clinical, immunological, and molecular findings in 57 patients with severe combined immunodeficiency (SCID) from India. Front Immunol. 2019. https://doi.org/10.3389/fimmu.2019.00023.

Article  PubMed  PubMed Central  Google Scholar 

Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, et al. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0649-3.

Article  PubMed  PubMed Central  Google Scholar 

Arunachalam AK, Maddali M, Aboobacker FN, Korula A, George B, Mathews V, et al. Primary immunodeficiencies in India: molecular diagnosis and the role of next-generation sequencing. J Clin Immunol. 2020;41(2):393–413. https://doi.org/10.1007/s10875-020-00923-2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Asgardoon MH, Azizi G, Yazdani R, Sohani M, Pashangzadeh S, Kalantari A, et al. Monogenic primary immunodeficiency disorder associated with common variable immunodeficiency and autoimmunity. Int Arch Allergy Immunol. 2020;181(9):706–14. https://doi.org/10.1159/000508817.

Article  CAS  PubMed  Google Scholar 

Borghesi A, Trück J, Asgari S, Sancho-Shimizu V, Agyeman PKA, Bellos E, et al. Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: a prospective. Popul Based Cohort Study Clin Infect Dis. 2020;71(10):e614–23. https://doi.org/10.1093/cid/ciaa290.

Article  CAS  Google Scholar 

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66–81. https://doi.org/10.1007/s10875-020-00758-x.

Article  PubMed  PubMed Central  Google Scholar 

Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, et al. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: a working group report of the primary immunodeficiency diseases committee of the American academy of allergy, asthma and immunology. J Allergy Clin Immunol. 2020;145(1):46–69. https://doi.org/10.1016/j.jaci.2019.09.009.

Article  CAS  PubMed  Google Scholar 

Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, et al. Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies. Front Immunol. 2019. https://doi.org/10.3389/fimmu.2019.00316.

Article  PubMed  PubMed Central  Google Scholar 

Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, et al. Implementation of early next-generation sequencing for inborn errors of immunity: a prospective observational cohort study of diagnostic yield and clinical implications in dutch genome diagnostic centers. Front Immunol. 2021. https://doi.org/10.3389/fimmu.2021.780134.

Article  PubMed  PubMed Central  Google Scholar 

Engelbrecht C, Urban M, Schoeman M, Paarwater B, van Coller A, Abraham DR, et al. Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting. Front Immunol. 2021. https://doi.org/10.3389/fimmu.2021.665621.

Article  PubMed  PubMed Central  Google Scholar 

Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, et al. Investigation of genetic defects in severe combined immunodeficiency patients from turkey by targeted sequencing. Scand J Immunol. 2017;85(3):227–34. https://doi.org/10.1111/sji.12523.

Article  CAS  PubMed  Google Scholar 

Erman B, Çipe F. Genetic screening of the patients with primary immunodeficiency by whole-exome sequencing. Pediatr Allergy Immunol Pulmonol. 2020;33(1):19–24. https://doi.org/10.1089/ped.2019.1097.

Article  PubMed  PubMed Central  Google Scholar 

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–74. https://doi.org/10.1038/gim.2013.73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, et al. Use of genetic testing for primary immunodeficiency patients. J Clin Immunol. 2018;38(3):320–9. https://doi.org/10.1007/s10875-018-0489-8.

Article  CAS  PubMed  Google Scholar 

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, et al. Clinical and immunological characterization of ICF syndrome in Japan. J Clin Immunol. 2018;38(8):927–37. https://doi.org/10.1007/s10875-018-0559-y.

Article  CAS  PubMed  Google Scholar 

Kircher M, Kelso J. High-throughput DNA sequencing–concepts and limitations. BioEssays. 2010;32(6):524–36. https://doi.org/10.1002/bies.200900181.

Article  CAS  PubMed  Google Scholar 

Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021;82(11):871–82. https://doi.org/10.1016/j.humimm.2021.02.011.

Article  CAS  PubMed  Google Scholar 

Maffucci P, Filion CA, Boisson B, Itan Y, Shang L, Casanova J-L, et al. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency. Front Immunol. 2016. https://doi.org/10.3389/fimmu.2016.00220.

Article  PubMed  PubMed Central  Google Scholar 

Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, et al. Added value of reanalysis of whole exome- and whole genome sequencing data from patients suspected of primary immune deficiency using an extended gene panel and structural variation calling. Front Immunol. 2022. https://doi.org/10.3389/fimmu.2022.906328.

Article  PubMed  PubMed Central  Google Scholar 

Mu W, Lu HM, Chen J, Li S, Elliott AM. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016;18(6):923–32. https://doi.org/10.1016/j.jmoldx.2016.07.006.

Article  CAS  PubMed  Google Scholar 

Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014;133(2):529-534.e521. https://doi.org/10.1016/j.jaci.2013.08.032.

Article  CAS  PubMed  Google Scholar 

Okano T, Imai K, Naruto T, Okada S, Yamashita M, Yeh T-W, et al. Whole-exome sequencing-based approach for germline mutations in patients with inborn errors of immunity. J Clin Immunol. 2020;40(5):729–40. https://doi.org/10.1007/s10875-020-00798-3.

Article  CAS  PubMed  Google Scholar 

Platt CD, Zaman F, Bainter W, Stafstrom K, Almutairi A, Reigle M, et al. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. J Allergy Clin Immunol. 2021;147(2):723–6. https://doi.org/10.1016/j.jaci.2020.08.022.

Article  CAS  PubMed  Google Scholar 

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