1. Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A.
- Author
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Pandey, Gouri Shankar, Yanover, Chen, Miller-Jenkins, Lisa M, Garfield, Susan, Cole, Shelley A, Curran, Joanne E, Moses, Eric K, Rydz, Natalia, Simhadri, Vijaya, Kimchi-Sarfaty, Chava, Lillicrap, David, Viel, Kevin R, Przytycka, Teresa M, Pierce, Glenn F, Howard, Tom E, Sauna, Zuben E, and PATH (Personalized Alternative Therapies for Hemophilia) Study Investigators
- Subjects
PATH (Personalized Alternative Therapies for Hemophilia) Study Investigators ,Humans ,Hemophilia A ,Factor VIII ,Pharmacogenetics ,Introns ,Chromosome Inversion ,Antibodies ,Neutralizing ,HEK293 Cells ,Rare Diseases ,Genetics ,Biotechnology ,Prevention ,Hematology ,Medical and Health Sciences ,Immunology - Abstract
Neutralizing antibodies (inhibitors) to replacement factor VIII (FVIII, either plasma derived or recombinant) impair the effective management of hemophilia A. Individuals with hemophilia A due to major deletions of the FVIII gene (F8) lack antigenically cross-reactive material in their plasma ("CRM-negative"), and the prevalence of inhibitors in these individuals may be as high as 90%. Conversely, individuals with hemophilia A caused by F8 missense mutations are CRM-positive, and their overall prevalence of inhibitors is
- Published
- 2013