Article
Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.
Proceedings of the National Academy of Sciences of the United States of America - 26 Mar 2013
Wang Hong-Ying, Ma Chi A, Zhao Yongge, Fan Xiying, Zhou Qing, Edmonds Pamela, Uzel Gulbu, Oliveira Joao Bosco, Orange Jordan, Jain Ashish
Abstract excerpt
Mutations in the TNF family of proteins have been associated with inherited forms of immune deficiency. Using an array-based sequencing assay, we identified an autosomal-dominant deficiency in TNF-like weak inducer of apoptosis (TWEAK; TNFSF12) in a kindred with recurrent infection and impaired antibody responses to protein and polysaccharide vaccines. This mutation occurs in the sixth exon of TWEAK and results...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.