Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome
Olivier Pellé, Solange Moreno, Myriam Ricarda Lorenz, Quentin Riller, Marita Fuehrer, Marie‐Claude Stolzenberg, Maria Elena Maccari, Christelle Lenoir, Morgane Cheminant, Tanja Hinze, Holger Hebart, Christoph König, Adrien Schvartz, Yohann Schmitt, Angélique Vinit, Émilie Henry, Aurore Touzart, Patrick Villarèse, Pierre Isnard, N. Neveux, Judith Landman‐Parker, Capucine Pïcard, Fanny Fouyssac, Bénédicte Neven, Bodo Grimbacher, Carsten Speckmann, Alain Fischer, Sylvain Latour, Klaus Schwarz, Stephan Ehl, Frédéric Rieux‐Laucat, Anne Rensing‐Ehl, Aude Magérus
Topics & Concepts
FADDGermline mutationLoss of heterozygosityGermlineBiologyAutoimmune lymphoproliferative syndromeSomatic cellGeneticsCancer researchMutationAlleleGeneFas receptorProgrammed cell deathCaspaseApoptosisImmune Cell Function and InteractionLymphoma Diagnosis and TreatmentCell death mechanisms and regulation