Article
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
American journal of human genetics - 5 Oct 2012
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, Long Priel Debra A, Ombrello Amanda, Stone Deborah, Ombrello Michael J, Khan Javed, Milner Joshua D, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
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 samples, including the affected father and daughter and unaffected mother, were filtered for the exclusion of reported...
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