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Article

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

The Journal of experimental medicine - 27 Jun 2016

Keller Baerbel, Zaidman Irina, Yousefi O Sascha, Hershkovitz Dov, Stein Jerry, Unger Susanne, Schachtrup Kristina, Sigvardsson Mikael, Kuperman Amir A, Shaag Avraham, Schamel Wolfgang W, Elpeleg Orly, Warnatz Klaus, Stepensky Polina

Abstract excerpt

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...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27242165
DOI: 10.1084/jem.20151110
PMCID: PMC4925012

Genes

LAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.PMID 27242165Read ↗

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