MYH9-RD is usually misdiagnosed in clinical practice. This review from @kf_chen provides an updated and comprehensive summary of the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches of this rare disease.
https://t.co/ktbbu7a2ey
CD137 deficiency because of two novel biallelic TNFRSF9 mutations in a patient presenting with severe EBV‐associated lymphoproliferative disease - Shen - 2023 - Clinical & Translational Immunology - Wiley Online Library https://t.co/QtLZeFlptb
Time for more 2017 WHO updates! Pediatric-type follicular lymphoma usually presents as Stage I disease with excellent prognosis.
Must identify at least partial nodal effacement to rule out follicular hyperplasia which can rarely show CD10+ clones in this age group! #hemepath
Nonsense-mediated mRNA decay (NMD) is a surveillance pathway to reduce errors in gene expression by eliminating mRNA transcripts that contain premature stop codons. Which can lead to deleterious gain-of-function or dominant-negative activity of the resulting proteins.
At the end of a great @GeneticsSociety#ASHG22, I wanted to share & get feedback on my "cheatsheet" of online resources, tools, and databases.
This was developed with @capra_lab collabs 🙏and at VUMC medical genetics. Please comment/message to add 💡!
https://t.co/f9q8uSukyr