FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome

The autoimmune lymphoproliferative syndrome (ALPS) is characterized by early-onset lymphadenopathy, splenomegaly, immune cytopenias, and an increased risk for B cell lymphomas. Most ALPS patients harbor mutations in the FAS gene, which regulates lymphocyte apoptosis. These are commonly missense muta...

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Huvudupphovsmän: Kuehn, Hye Sun, Caminha, Iusta, Niemela, Julie E., Rao, V. Koneti, Davis, Joie, Fleisher, Thomas A., Oliveira, João B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2011
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3725553/
https://ncbi.nlm.nih.gov/pubmed/21490157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4049/jimmunol.1100021
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