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

A brother and sister developed a previously undescribed constellation of autoimmune manifestations within their first year of life, with uncontrollable bullous pemphigoid, colitis, and proteinuria. The boy had hemophilia due to a factor VIII autoantibody and nephrotic syndrome. Both children require...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749924/
https://www.ncbi.nlm.nih.gov/pubmed/26783323
http://dx.doi.org/10.1084/jem.20150888

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