Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

BACKGROUND: Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance. METHODS: We identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility...

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Main Authors: Ombrello, Michael J., Remmers, Elaine F., Sun, Guangping, Freeman, Alexandra F., Datta, Shrimati, Torabi-Parizi, Parizad, Subramanian, Naeha, Bunney, Tom D., Baxendale, Rhona W., Martins, Marta S., Romberg, Neil, Komarow, Hirsh, Aksentijevich, Ivona, Kim, Hun Sik, Ho, Jason, Cruse, Glenn, Jung, Mi-Yeon, Gilfillan, Alasdair M., Metcalfe, Dean D., Nelson, Celeste, O'Brien, Michelle, Wisch, Laura, Stone, Kelly, Douek, Daniel C., Gandhi, Chhavi, Wanderer, Alan A., Lee, Hane, Nelson, Stanley F., Shianna, Kevin V., Cirulli, Elizabeth T., Goldstein, David B., Long, Eric O., Moir, Susan, Meffre, Eric, Holland, Steven M., Kastner, Daniel L., Katan, Matilda, Hoffman, Hal M., Milner, Joshua D.
格式: Artigo
語言:Inglês
出版: 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298368/
https://ncbi.nlm.nih.gov/pubmed/22236196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1102140
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