Ontology highlight
ABSTRACT:
SUBMITTER: Wang HY
PROVIDER: S-EPMC3612633 | biostudies-other | 2013 Mar
REPOSITORIES: biostudies-other
Wang Hong-Ying HY Ma Chi A CA Zhao Yongge Y Fan Xiying X Zhou Qing Q Edmonds Pamela P Uzel Gulbu G Oliveira Joao Bosco JB Orange Jordan J Jain Ashish A
Proceedings of the National Academy of Sciences of the United States of America 20130314 13
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 in the amino acid substitution R145C within the conserved TNF-homology domain of the ...[more]