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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha: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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