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@ARTICLE{Friedmann:306660,
author = {D. Friedmann and K. J. Payne and V. Cousin and G. Andrieux
and K. Meng and A. E. Schlaak and S. Unger and A. Klocperk
and C. Geier and K. Gräwe and J. Pfeiffer and T. F. Jakob
and O. Hausmann and P. Anhut and M. Shabani and K. Kurowski
and M. Rogg and K. Aumann and M. Seidl and J. Provaznik and
V. Benes and M. Boerries$^*$ and T. Boettler and C. Schell
and S. Goldacker and B. Keller and B. Bengsch$^*$ and K.
Warnatz},
title = {{E}xpansion of a distinct cytotoxic {CD}4 {TFH}-cell
cluster in lymph nodes of patients with complicated {C}ommon
{V}ariable {I}mmunodeficiency.},
journal = {The journal of allergy and clinical immunology},
volume = {nn},
issn = {0091-6749},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DKFZ-2025-02653},
pages = {nn},
year = {2025},
note = {epub},
abstract = {Patients with common variable immunodeficiency (CVID)
suffer from hypogammaglobulinemia linked to an inadequate
differentiation of long-lived humoral immunity and an
impaired germinal center (GC) response in the majority of
cases.To further characterize the transcriptome and
phenotype of T follicular helper (TFH) cells of complicated
CVID (CVIDc) patients as key players in the GC
reaction.Sorted TFH cells from CVIDc lymph nodes and
non-CVID immunocompetent tonsils were analyzed by
bulk-RNA-sequencing. Altered protein expression was verified
by comparison to non-CVID tonsils and lymph nodes using
CyTOF analysis. Tissue localization of cells was determined
by multi-fluorescence imaging.Transcriptome analysis of
sorted TFH cells revealed an enrichment of
cytotoxicity-associated gene sets in CVIDc patients.
Extended immune phenotyping identified different cytotoxic
CD4 memory populations expressing T-bet, EOMES, CRTAM,
perforin, and granzymes. One cluster co-expressing markers
of TFH differentiation CXCR5, ICOS, and PD1 was expanded in
CVIDc lymph nodes. Histological sections confirmed the
increase in Granzyme-B+EOMES+ CD4 cells within GCs of
patients' lymph nodes. Only few of these cells circulate in
peripheral blood.Our study reports for the first time that
the type 1 polarization in lymph nodes of CVIDc patients is
associated with an expansion of a distinct cytotoxic CD4 TFH
cell cluster within GCs which is only poorly reflected in
peripheral blood. As a detrimental role of these cells has
been implied in the context of autoimmunity and chronic
infection further investigations are required to explore
their role in the GC failure and immune dysregulation in
CVID patients.},
keywords = {CD4 T cells (Other) / CVID (Other) / Common variable
immunodeficiency (Other) / CyTOF (Other) / RNAseq (Other) /
T follicular helper cell (Other) / cytotoxicity (Other) /
lymph node (Other) / type 1 polarization (Other)},
cin = {FR01},
ddc = {610},
cid = {I:(DE-He78)FR01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41314478},
doi = {10.1016/j.jaci.2025.09.032},
url = {https://inrepo02.dkfz.de/record/306660},
}