A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.

doi:10.1007/s00335-016-9668-1

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Article

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Feb 2017

Aberdein Danielle, Munday John S, Gandolfi Barbara, Dittmer Keren E, Malik Richard, Garrick Dorian J, Lyons Leslie A

Abstract excerpt

British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were...

Topics

Animals
Apoptosis
Autoimmune Lymphoproliferative Syndrome
Cats
Codon, Nonsense
Fas Ligand Protein
Frameshift Mutation
Genome
Humans
Lymphocytes
Mutation
Whole Genome Sequencing
fas Receptor

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PMID: 27770190
DOI: 10.1007/s00335-016-9668-1

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