The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
Open accessAbstract
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. A systematic literature search was performed to include cohort studies published in peer-reviewed journals with data on inhibitor incidences in the various F8 gene mutation types and a mutation detection rate of at least 80%. Pooled odds ratios (ORs) of inhibitor development for different types of F8 gene mutations were calculated with intron 22 inversion as the reference. Data were included from 30 studies on 5383 patients, including 1029 inhibitor patients. The inhibitor risk in large deletions and nonsense mutations was higher than in intron 22 inversions (pooled OR = 3.6, 95% confidence interval [95% CI], 2.3-5.7 and OR = 1.4, 95% CI, 1.1-1.8, respectively), the risk in intron 1 inversions and splice-site mutations was equal (pooled OR = 0.9; 95% CI, 0.6-1.5 and OR = 1.0; 95% CI, 0.6-1.5), and the risk in small deletions/insertions and missense mutations was lower (pooled OR = 0.5; 95% CI, 0.4-0.6 and OR = 0.3; 95% CI, 0.2-0.4, respectively). The relative risks for developing high titer inhibitors were similar.
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
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Cited by
The past and future of haemophilia: diagnosis, treatments, and its complications
Peyvandi, F., Garagiola, I., & Young, G. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01123-x · Cited by 505
Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A
Mahlangu, J., Powell, J. S., Ragni, M. V., Chowdary, P., Josephson, N. C., Pabinger, I., Hanabusa, H., Gupta, N., Kulkarni, R., Fogarty, P., et al. (2014) · Blood · doi:10.1182/blood-2013-10-529974 · Cited by 454
Factor VIII Products and Inhibitor Development in Severe Hemophilia A
Gouw, S. C., van der Bom, J. G., Ljung, R., Escuriola, C., Cid, A. R., Claeyssens-Donadel, S., van Geet, C., Kenet, G., Mäkipernaa, A., Molinari, A. C., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1208024 · Cited by 440
Self-citationGouw, S. C., van den Berg, H. M., Fischer, K., Auerswald, G., Carcao, M., Chalmers, E., Chambost, H., Kurnik, K., Liesner, R., Petrini, P., et al. (2013) · Blood · doi:10.1182/blood-2012-09-457036 · Cited by 332
Self-citationImmunogenicity assessment during the development of protein therapeutics
Rosenberg, A. S., & Sauna, Z. E. (2018) · Journal of Pharmacy and Pharmacology · doi:10.1111/jphp.12810 · Cited by 131
Metadata
- Authors
- Gouw, S. C., van den Berg, H. M., Oldenburg, J., Astermark, J., de Groot, P. G., Margaglione, M., Thompson, A. R., van Heerde, W., Boekhorst, J., Miller, C. H., le Cessie, S., & van der Bom, J. G.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-03-22
- Volume
- 119
- Issue
- 12
- Pages
- 2922-2934
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1997760245
- Cited by
- 358
- References
- 41
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Gouw, S. C., van den Berg, H. M., Oldenburg, J., Astermark, J., de Groot, P. G., Margaglione, M., Thompson, A. R., van Heerde, W., Boekhorst, J., Miller, C. H., le Cessie, S., & van der Bom, J. G. (2012). F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood. https://doi.org/10.1182/blood-2011-09-379453
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