• Nicholas E Peters, Mac LochlainnDylan JDJFrom the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine , Fatima Dhalla, Lucy Howarth, Girish L Gupte, Khalid Sharif, Rashmi Jain, Dominic Kelly, and Smita Y Patel.
• From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University of Oxford, Oxford, and the Clinical Immunology Service, Institute of Immunology and Immunotherapy, College of Medical and Dental Sciences, University of Birmingham (N.E.P.), and the Liver Unit, Birmingham Women's and Children's Hospital (G.L.G., K.S.), Birmingham - all in the United Kingdom.
• N. Engl. J. Med. 2024 Jul 4; 391 (1): 565956-59.

AbstractHereditary angioedema is a potentially life-threatening autosomal dominant condition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are caused by mutations in the gene encoding C1 inhibitor, SERPING1. C1 inhibitor is a multifunctional protein produced in the liver that regulates the kallikrein-kinin system at multiple points. An infant with genetically confirmed hereditary angioedema and low C1 inhibitor levels (but without previous episodes of angioedema) underwent liver transplantation for biliary atresia, an unrelated condition. Liver transplantation led to normalization of the C1 inhibitor level and function. To our knowledge, this represents the first patient to be potentially cured of hereditary angioedema.Copyright © 2024 Massachusetts Medical Society.

24 keywords...

hide…