A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

Whole-exome sequencing was performed in a family affected by dominantly inherited inflammatory disease characterized by recurrent blistering skin lesions, bronchiolitis, arthralgia, ocular inflammation, enterocolitis, absence of autoantibodies, and mild immunodeficiency. Exome data from three sample...

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Main Authors: Zhou, Qing, Lee, Geun-Shik, Brady, Jillian, Datta, Shrimati, Katan, Matilda, Sheikh, Afzal, Martins, Marta S., Bunney, Tom D., Santich, Brian H., Moir, Susan, Kuhns, Douglas B., Priel, Debra A. Long, Ombrello, Amanda, Stone, Deborah, Ombrello, Michael J., Khan, Javed, Milner, Joshua D., Kastner, Daniel L., Aksentijevich, Ivona
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2012
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484656/
https://ncbi.nlm.nih.gov/pubmed/23000145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.006
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