Fantastic case at #ESHBMFD2020: Pt with hemolytic anemia, FLAER+, concomitant ET and nephrotic syndr but negative PIGAm. Exome seq= PIGV mutation with CN-LOH, along with MPLm (also on chr 1). Nephrotic syndrome is due to excess free uPAR, which is normally GPI-linked on plts.
BMT causes clonal hematopoiesis, and it seems like pts who have post-BMT CH have specific gene signatures as reported by Dr Beiderbos at #ESHBMFD2020. Next question to answer is how does CH impact the health of long-term survivals after BMT?
Catching up on fantastic sessions of #ESHBMFD2020. Yigal Dror discussing the treatment of ribosomopathies. Androgens and G-CSF have been around for a while, BMT outcomes might be better without TBI. Exciting new therapies include ataluren and TGF-B inhibitors. #SDS #DBA
Great meeting thanks to all chairs, speakers & attendees. Missed something? Revisit the talks, discussions, posters and satellite symposia on the Conference E-platform in the recorded programme on demand. #ESHBMFD2020
This site place cookies on your machine for reasons including keeping track of your preferences, collecting aggregated statistics to analyze how our site is used, and to show you ads tailored to your interests. I have read and agree to the ESH GENERAL TERMS AND CONDITIONS OF USE for the ESH “1st Translational Research E-Conference on BONE MARROW FAILURE DISORDERS” virtual platform. ACCEPT
Privacy, Cookies Policy, General Terms and Conditions of Use
Necessary cookies are absolutely essential for the website to function properly. This category only includes cookies that ensures basic functionalities and security features of the website. These cookies do not store any personal information.
Any cookies that may not be particularly necessary for the website to function and is used specifically to collect user personal data via analytics, ads, other embedded contents are termed as non-necessary cookies. It is mandatory to procure user consent prior to running these cookies on your website.