Article
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
The Journal of allergy and clinical immunology - 1 Jan 2024
Pellé Olivier, Moreno Solange, Lorenz Myriam Ricarda, Riller Quentin, Fuehrer Marita, Stolzenberg Marie-Claude, Maccari Maria Elena, Lenoir Christelle, Cheminant Morgane, Hinze Tanja, Hebart Holger F, König Christoph, Schvartz Adrien, Schmitt Yohann, Vinit Angélique, Henry Emilie, Touzart Aurore, Villarese Patrick, Isnard Pierre, Neveux Nathalie, Landman-Parker Judith, Picard Capucine, Fouyssac Fanny, Neven Bénédicte, Grimbacher Bodo, Speckmann Carsten, Fischer Alain, Latour Sylvain, Schwarz Klaus, Ehl Stephan, Rieux-Laucat Frédéric, Rensing-Ehl Anne, Magérus Aude
Abstract excerpt
BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is a noninfectious and nonmalignant lymphoproliferative disease frequently associated with autoimmune cytopenia resulting from defective FAS signaling. We previously described germline monoallelic FAS (TNFRSF6) haploinsufficient mutations associated with somatic events, such as loss of heterozygosity on the second allele of FAS, as a cause of...
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