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@ARTICLE{Bruno:282549,
author = {Bruno, Mariolina and Kröger, Charlotte and Ferreira,
Anaísa V and Zhang, Bowen and Röring, Rutger J and Liu,
Ruiqi and van der Made, Caspar I and van Rhijn, Norman and
Groh, Laszlo and Klück, Viola and Janssen, Nico A F and Li,
Wenchao and Rosati, Diletta and Alaswad, Ahmed and Tercan,
Helin and Saiz, Jorge and Gonzalez-Riano, Carolina and van
Uelft, Martina and Gaal, Orsolya Ildiko and Müller, Sophie
and Ferreira, Humberto J and Warnat-Herresthal, Stefanie and
Becker, Matthias and Holsten, Lisa and Kraut, Michael and
Schulte-Schrepping, Jonas and Bonaguro, Lorenzo and
Händler, Kristian and Cunha, Cristina and Schmolz, Manfred
and Schultze, Joachim L and Joosten, Leo A B and Barbas,
Coral and Netea, Mihai G and Li, Yang and Aschenbrenner,
Anna C and Carvalho, Agostinho and van de Veerdonk, Frank L},
title = {{I}nterferon gamma rebalances immunopathological signatures
in chronic granulomatous disease through metabolic
rewiring.},
journal = {Blood advances},
volume = {9},
number = {20},
issn = {2473-9529},
address = {Washington, DC},
publisher = {American Society of Hematology},
reportid = {DZNE-2025-01312},
pages = {5306 - 5322},
year = {2025},
abstract = {Chronic granulomatous disease (CGD) is a primary
immunodeficiency characterized by recurrent life-threatening
infections and hyperinflammatory complications. It is caused
by mutations in the reduced nicotinamide adenine
dinucleotide phosphate (NADPH) oxidase complex and the
consequent loss of reactive oxygen species (ROS) production.
Recombinant human interferon gamma (rIFN-γ) prophylaxis
reduces the risk of severe infections, but the mechanisms
behind its efficacy in CGD are still an open question, as it
does not restore NADPH oxidase-dependent ROS production.
Here, we demonstrate that the innate immune cells of
patients with CGD are transcriptionally and functionally
reprogrammed to a hyperactive inflammatory status,
displaying an impaired in vitro induction of trained
immunity. CGD monocytes have reduced intracellular amino
acid concentrations and profound functional metabolic
defects, both at the level of glycolysis and mitochondrial
respiration. Ex vivo and in vivo treatments with IFN-γ
restored these metabolic defects and reduced excessive
interleukin 1β (IL-1β) and IL-6 production in response to
fungal stimuli in CGD monocytes. These data suggest that
prophylactic rIFN-γ modulates the metabolic status of
innate immune cells in CGD. These data shed light on the
effects of NADPH oxidase-derived ROS deficiency to the
metabolic programs of immune cells and pose the basis for
targeting this immunometabolic axis, potentially beyond CGD,
with IFN-γ immunotherapy.},
keywords = {Humans / Granulomatous Disease, Chronic: metabolism /
Granulomatous Disease, Chronic: immunology / Granulomatous
Disease, Chronic: drug therapy / Granulomatous Disease,
Chronic: pathology / Interferon-gamma: pharmacology /
Interferon-gamma: therapeutic use / Reactive Oxygen Species:
metabolism / Monocytes: metabolism / Monocytes: immunology /
Monocytes: drug effects / Immunity, Innate: drug effects /
NADPH Oxidases: metabolism / Male / Female /
Interferon-gamma (NLM Chemicals) / Reactive Oxygen Species
(NLM Chemicals) / NADPH Oxidases (NLM Chemicals)},
cin = {AG Aschenbrenner / AG Schultze / AG Bonaguro / AG Becker /
PRECISE},
ddc = {610},
cid = {I:(DE-2719)5000082 / I:(DE-2719)1013038 /
I:(DE-2719)1016005 / I:(DE-2719)5000079 /
I:(DE-2719)1013031},
pnm = {354 - Disease Prevention and Healthy Aging (POF4-354) / 352
- Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-354 / G:(DE-HGF)POF4-352},
experiment = {EXP:(DE-2719)PRECISE-20190321},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40674716},
pmc = {pmc:PMC12556223},
doi = {10.1182/bloodadvances.2025016213},
url = {https://pub.dzne.de/record/282549},
}