Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl
BACKGROUND: Elevated TCRαβ+ CD4- CD8- double-negative T-cells (DNT) and serum biomarkers help identifying FAS mutant patients with autoimmune lymphoproliferative syndrome (ALPS). However, in some patients with clinical features and biomarkers consistent with ALPS, germline or somatic FAS mutations cannot be identified upon standard exon sequencing (ALPS-undetermined: ALPS-U). OBJECTIVE: We aimed to explore whether complex genetic alterations in the FAS gene escaping standard sequencing or mutations in other FAS pathway-related genes could explain these cases...
November 16, 2023: Journal of Allergy and Clinical Immunology