Article
Analysis of mutations and recombination activity in RAG-deficient patients.
Clinical immunology (Orlando, Fla.) - 1 Feb 2011
Asai Erika, Wada Taizo, Sakakibara Yasuhisa, Toga Akiko, Toma Tomoko, Shimizu Takashi, Nampoothiri Sheela, Imai Kohsuke, Nonoyama Shigeaki, Morio Tomohiro, Muramatsu Hideki, Kamachi Yoshiro, Ohara Osamu, Yachie Akihiro
Abstract excerpt
Mutations in the recombination activating genes (RAG1 or RAG2) can lead to a variety of immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of Omenn syndrome, 1 of severe combined immunodeficiency, and 1 of combined immunodeficiency with oligoclonal TCRγδ(+) T cells, autoimmunity and cytomegalovirus infection. The genetic defects were heterogeneous and included 6 novel RAG...
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