Article
TRAP1 chaperone protein mutations and autoinflammation.
Life science alliance - 1 Feb 2020
Standing Ariane Si, Hong Ying, Paisan-Ruiz Coro, Omoyinmi Ebun, Medlar Alan, Stanescu Horia, Kleta Robert, Rowcenzio Dorota, Hawkins Philip, Lachmann Helen, McDermott Michael F, Eleftheriou Despina, Klein Nigel, Brogan Paul A
Abstract excerpt
We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model. Further genetic studies revealed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.