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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:J Exp Med
Auteurs principaux: 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: Artigo
Langue:Inglês
Publié: The Rockefeller University Press 2016
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4749924/
https://ncbi.nlm.nih.gov/pubmed/26783323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20150888
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires