Combined germline and somatic Human FADD mutations cause autoimmune lymphoproliferative syndrome.
Fiche publication
Date publication
octobre 2023
Journal
The Journal of allergy and clinical immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr FOUYSSAC Fanny
Tous les auteurs :
Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A
Lien Pubmed
Résumé
The autoimmune lymphoproliferative syndrome (ALPS) is a non-infectious and non-malignant lymphoproliferative disease frequently associated with autoimmune cytopenia resulting from defective FAS signaling. We previously described germline mono-allelic FAS (TNFRSF6) haplo-insufficient mutations associated with somatic events, such as loss of heterozygosity (LOH) on the second allele of FAS, as a cause of ALPS-FAS. These somatic events were identified by sequencing FAS in DNA from double negative T cells (DN T), the pathognomonic T cell subset in ALPS, in which the somatic events accumulated.
Mots clés
ALPS, FADD, LOH, autoimmunity
Référence
J Allergy Clin Immunol. 2023 10 2;: