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@ARTICLE{Wu:143809,
author = {J. Wu$^*$ and S. Ma$^*$ and R. Sandhoff$^*$ and Y. Ming and
A. Hotz-Wagenblatt$^*$ and V. Timmerman and N. Bonello-Palot
and B. Schlotter-Weigel and M. Auer-Grumbach and P. Seeman
and W. N. Löscher and M. Reindl and F. Weiss and E. Mah and
N. Weisshaar$^*$ and A. Madi$^*$ and K. Mohr$^*$ and T.
Schlimbach$^*$ and R. M. Velasco Cárdenas$^*$ and J.
Koeppel$^*$ and F. Grünschläger$^*$ and L. Müller$^*$ and
M. Baumeister$^*$ and B. Brügger and M. Schmitt and G.
Wabnitz and Y. Samstag and G. Cui$^*$},
title = {{L}oss of {N}eurological {D}isease {HSAN}-{I}-{A}ssociated
{G}ene {SPTLC}2 {I}mpairs {CD}8+ {T} {C}ell {R}esponses to
{I}nfection by {I}nhibiting {T} {C}ell {M}etabolic
{F}itness.},
journal = {Immunity},
volume = {50},
number = {5},
issn = {1074-7613},
address = {New York, NY},
publisher = {Elsevier},
reportid = {DKFZ-2019-01371},
pages = {1218 - 1231.e5},
year = {2019},
abstract = {Patients with the neurological disorder HSAN-I suffer
frequent infections, attributed to a lack of pain sensation
and failure to seek care for minor injuries. Whether
protective CD8+ T cells are affected in HSAN-I patients
remains unknown. Here, we report that HSAN-I-associated
mutations in serine palmitoyltransferase subunit SPTLC2
dampened human T cell responses. Antigen stimulation and
inflammation induced SPTLC2 expression, and murine
T-cell-specific ablation of Sptlc2 impaired antiviral-T-cell
expansion and effector function. Sptlc2 deficiency reduced
sphingolipid biosynthetic flux and led to prolonged
activation of the mechanistic target of rapamycin complex 1
(mTORC1), endoplasmic reticulum (ER) stress, and CD8+
T cell death. Protective CD8+ T cell responses in HSAN-I
patient PBMCs and Sptlc2-deficient mice were restored by
supplementing with sphingolipids and pharmacologically
inhibiting ER stress-induced cell death. Therefore, SPTLC2
underpins protective immunity by translating extracellular
stimuli into intracellular anabolic signals and antagonizes
ER stress to promote T cell metabolic fitness.},
cin = {D140 / D192 / A411 / G131},
ddc = {610},
cid = {I:(DE-He78)D140-20160331 / I:(DE-He78)D192-20160331 /
I:(DE-He78)A411-20160331 / I:(DE-He78)G131-20160331},
pnm = {314 - Tumor immunology (POF3-314)},
pid = {G:(DE-HGF)POF3-314},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30952607},
doi = {10.1016/j.immuni.2019.03.005},
url = {https://inrepo02.dkfz.de/record/143809},
}