A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

Chan et al. describe a combination of alleles with hypomorphic and activating mutations in the T cell signaling molecule ZAP-70 in a patient with autoimmunity.

Bibliographic Details
Main Authors: Chan, Alice Y., Punwani, Divya, Kadlecek, Theresa A., Cowan, Morton J., Olson, Jean L., Mathes, Erin F., Sunderam, Uma, Man Fu, Shu, Srinivasan, Rajgopal, Kuriyan, John, Brenner, Steven E., Weiss, Arthur, Puck, Jennifer M.
Format: Online
Language:English
Published: The Rockefeller University Press 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749924/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749924/

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