The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Open accessAbstract
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole‐exome screening methods to detect disease‐causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole‐exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome‐tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD‐causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high‐throughput genomic approach enabled detection of disease‐related variants in unexpected genes; permitted detection of low‐grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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BackgroundSelf-citationTargeted genome editing in human repopulating haematopoietic stem cells
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Cited by
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1516767 · Cited by 769
Self-citationLessons learned from additional research analyses of unsolved clinical exome cases
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Self-citationIncomplete penetrance in primary immunodeficiency: a skeleton in the closet
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Metadata
- Authors
- Stray-Pedersen, A., Sorte, H. S., Samarakoon, P., Gambin, T., Chinn, I. K., Coban Akdemir, Z. H., Erichsen, H. C., Forbes, L. R., Gu, S., Yuan, B., Jhangiani, S. N., Muzny, D. M., Rødningen, O. K., Sheng, Y., Nicholas, S. K., Noroski, L. M., Seeborg, F. O., Davis, C. M., Canter, D. L., Mace, E. M., Vece, T. J., Allen, C. E., Abhyankar, H. A., Boone, P. M., Beck, C. R., Wiszniewski, W., Fevang, B., Aukrust, P., Tjønnfjord, G. E., Gedde-Dahl, T., Hjorth-Hansen, H., Dybedal, I., Nordøy, I., Jørgensen, S. F., Abrahamsen, T. G., Øverland, T., Bechensteen, A. G., Skogen, V., Osnes, L. T. N., Kulseth, M. A., Prescott, T. E., Rustad, C. F., Heimdal, K. R., Belmont, J. W., Rider, N. L., Chinen, J., Cao, T. N., Smith, E. A., Caldirola, M. S., Bezrodnik, L., Lugo Reyes, S. O., Espinosa Rosales, F. J., Guerrero-Cursaru, N. D., Pedroza, L. A., Poli, C. M., Franco, J. L., Trujillo Vargas, C. M., Aldave Becerra, J. C., Wright, N., Issekutz, T. B., Issekutz, A. C., Abbott, J., Caldwell, J. W., Bayer, D. K., Chan, A. Y., Aiuti, A., Cancrini, C., Holmberg, E., West, C., Burstedt, M., Karaca, E., Yesil, G., Artac, H., Bayram, Y., Atik, M. M., Eldomery, M. K., Ehlayel, M. S., Jolles, S., Flatø, B., Bertuch, A. A., Hanson, I. C., Zhang, V. W., Wong, L.-J., Hu, J., Walkiewicz, M., Yang, Y., Eng, C. M., Boerwinkle, E., Gibbs, R. A., Shearer, W. T., Lyle, R., Orange, J. S., & Lupski, J. R.
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 139
- Issue
- 1
- Pages
- 232-245
- ISSN
- 0091-6749 (ISSN-L)
- OpenAlex
- W2490698663
- Cited by
- 276
- References
- 8
- FWCI
- 14.81
- Type
- journal article
- Language
- en
- Open access
- green
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