Article
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
The Journal of allergy and clinical immunology - 1 Nov 2015
Holzinger Dirk, Fassl Selina Kathleen, de Jager Wilco, Lohse Peter, Röhrig Ute F, Gattorno Marco, Omenetti Alessia, Chiesa Sabrina, Schena Francesca, Austermann Judith, Vogl Thomas, Kuhns Douglas B, Holland Steven M, Rodríguez-Gallego Carlos, López-Almaraz Ricardo, Arostegui Juan I, Colino Elena, Roldan Rosa, Fessatou Smaragdi, Isidor Bertrand, Poignant Sylvaine, Ito Koichi, Epple Hans-Joerg, Bernstein Jonathan A, Jeng Michael, Frankovich Jennifer, Lionetti Geraldina, Church Joseph A, Ong Peck Y, LaPlant Mona, Abinun Mario, Skinner Rod, Bigley Venetia, Sachs Ulrich J, Hinze Claas, Hoppenreijs Esther, Ehrchen Jan, Foell Dirk, Chae Jae Jin, Ombrello Amanda, Aksentijevich Ivona, Sunderkoetter Cord, Roth Johannes
Abstract excerpt
BACKGROUND: Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin). OBJECTIVE: We sought to characterize the genetic cause and clinical spectrum of Hz/Hc. METHODS: Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.