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Literature summary for 3.4.22.63 extracted from

  • Cerutti, E.; Campagnoli, M.F.; Ferretti, M.; Garelli, E.; Crescenzio, N.; Rosolen, A.; Chiocchetti, A.; Lenardo, M.J.; Ramenghi, U.; Dianzani, U.
    Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome (2007), BMC Immunol., 8, 28.
    View publication on PubMedView publication on EuropePMC
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Application Comment Organism
medicine two patients that are combined heterozygous for single nucleotide substitutions in the Fas and caspase-10 genes. The first patient carries a splice site defect suppressing allele expression in the Fas gene and the P501L substitution in caspase-10. The second has a mutation causing a premature stop codon (Q47X) in the Fas gene and the Y446C substitution in caspase-10. Fas expression is reduced and caspase-10 activity is decreased in both patients. In both patients, the mutations are inherited from distinct healthy parents. Co-transmission of these mutation is responsible for autoimmune lymphoproliferative syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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