KEGG VARIANT: 27040v1

VARIANT: 27040v1

Entry

27040v1                      Variant

Name

LAT mutation

Type

Loss of function

Gene

LAT linker for activation of T cells [KO:K07362]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 602354

Network

nt06537 TCR/BCR signaling

Disease

H02526

Disorders of adaptive immunity

Reference

PMID:35091087

Authors

Latour S

Title

Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.

Journal

Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013

Reference

PMID:27242165

Authors

Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P

Title

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

Journal

J Exp Med 213:1185-99 (2016)
DOI:10.1084/jem.20151110

LinkDB

DBGET integrated database retrieval system