Ontology highlight
ABSTRACT:
SUBMITTER: Keller B
PROVIDER: S-EPMC4925012 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Keller Baerbel B Zaidman Irina I Yousefi O Sascha OS Hershkovitz Dov D Stein Jerry J Unger Susanne S Schachtrup Kristina K Sigvardsson Mikael M Kuperman Amir A AA Shaag Avraham A Schamel Wolfgang W WW Elpeleg Orly O Warnatz Klaus K Stepensky Polina P
The Journal of experimental medicine 20160530 7
The adapter protein linker for activation of T cells (LAT) is a critical signaling hub connecting T cell antigen receptor triggering to downstream T cell responses. In this study, we describe the first kindred with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic tail of LAT, including the critical tyrosine residues for signal propagation. The three patients presented from early childhood with combined immunodef ...[more]