Pauline Hägele, Paulina Staus, Raphael Scheible, Annette Uhlmann, Maximilian Heeg, Christian Klemann, Maria Elena Maccari, Henrike Ritterbusch, Martin Armstrong, Ioana Cutcutache, Katherine S Elliott, Horst von Bernuth, Timothy Ronan Leahy, Jörg Leyh, Dirk Holzinger, Kai Lehmberg, Peter Svec, Katja Masjosthusmann, Sophie Hambleton, Marcus Jakob, Monika Sparber-Sauer, Leo Kager, Alexander Puzik, Martin Wolkewitz, Myriam Ricarda Lorenz, Klaus Schwarz, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl
BACKGROUND: Lymphoproliferation and autoimmune cytopenias characterise autoimmune lymphoproliferative syndrome. Other conditions sharing these manifestations have been termed autoimmune lymphoproliferative syndrome-like diseases, although they are frequently more severe. The aim of this study was to define the genetic, clinical, and immunological features of these disorders to improve their diagnostic classification. METHODS: In this prospective cohort study, patients were referred to the Center for Chronic Immunodeficiency in Freiburg, Germany, between Jan 1, 2008 and March 5, 2022...
February 2024: Lancet Haematology