Alfonso Rodriguez Espada: Data Suggests Thrombosis Is as Likely as Hereditary Angioedema in C1INH Deficiency
Alfonso Rodriguez Espada, Postdoctoral Fellow at BIDMC and Broad Institute of Harvard and MIT, shared on LinkedIn:
”Predicted loss of function SERPING1 variants are associated with reduced plasma C1-inhibitor and a polyphenotypic thrombotic disorder!
Data suggests thrombosis is as likely as hereditary angioedema in C1INH deficiency.”
Read the full article in Blood Advances.
Article: Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder
Authors: Alfonso Rodriguez Espada, Amelia Haj, Sean Joseph Jurgens, Harish Eswaran, Linda Sundler Björkman, Justine Ryu, Sharjeel Chaudhry, Satoshi Koyama, Xin Wang, Seung Hoan Choi, Simone Sanna-Cherchi, Aleena Banerji, Joel T Rämö, Patrick T. Ellinor, Steven P Grover Corresponding Author , Pavan K Bendapudi
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