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• W4387246763 abstract "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.In four unrelated ALPS patients carrying a germline mono-allelic mutation of FADD (FAS associated death domain protein) inherited from a healthy parent, we sought to identify whether a somatic event affecting the FADD gene could be related to the disease onset.We sequenced FADD and performed array-based comparative genomic hybridization using DNA from sorted CD4+ or DN T cells.We found homozygous FADD mutations in the DN T cells from all 4 patients which resulted from uniparental disomy. FADD deficiency caused by germline heterozygous FADD mutations associated with a somatic loss of heterozygosity (LOH) was a phenocopy of ALPS-FAS without the more complex symptoms reported in patients with germline bi-allelic FADD mutations.The association of germline and somatic events affecting the FADD gene is a new genetic cause of ALPS.Two out of four patients received sirolimus and were in remission. ALPS-FADD/sLOH patients can thus benefit from this targeted treatment which is standard of care in ALPS-FAS patients." @default.
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• W4387246763 date "2023-10-01" @default.
• W4387246763 modified "2023-10-16" @default.
• W4387246763 title "Combined germline and somatic Human FADD mutations cause autoimmune lymphoproliferative syndrome" @default.
• W4387246763 doi "https://doi.org/10.1016/j.jaci.2023.09.028" @default.
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