PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
PMID 22237435 2012 Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
PMID 10875918 2000 Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.
PMID 15459303 2004 Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.