Pathophysiology Nodes

6
6 shared nodes are defined in this module.

Cell Types

3
Type 1 conventional dendritic cell (cDC1) CL:0000990 Cell Ontology (CL) Relation: this mechanism module involves this cell type This mechanism module involves Type 1 conventional dendritic cell (cDC1) (CL:0000990). CL:0000990 is a cell type from the Cell Ontology. CCR7+ late-mature tolerogenic cDC1 CL:0000841 Cell Ontology (CL) Relation: this mechanism module involves this cell type This mechanism module involves CCR7+ late-mature tolerogenic cDC1 (CL:0000841). CL:0000841 is a cell type from the Cell Ontology. Antigen-specific CD4+FOXP3+ regulatory T cell CL:0000815 Cell Ontology (CL) Relation: this mechanism module involves this cell type This mechanism module involves Antigen-specific CD4+FOXP3+ regulatory T cell (CL:0000815). CL:0000815 is a cell type from the Cell Ontology.

Biological Processes

9
Apoptotic Cell Clearance (Efferocytosis) GO:0043277 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Apoptotic Cell Clearance (Efferocytosis) (GO:0043277). GO:0043277 is a biological process from the Gene Ontology. INCREASED Erythropoietin Receptor Signalling in cDC1s GO:0038162 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Erythropoietin Receptor Signalling in cDC1s (GO:0038162). GO:0038162 is a biological process from the Gene Ontology. INCREASED Late-Mature cDC1 Differentiation GO:0097029 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Late-Mature cDC1 Differentiation (GO:0097029). GO:0097029 is a biological process from the Gene Ontology. INCREASED Cross-Presentation of Cell-Associated Antigen GO:0042590 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves decreased Cross-Presentation of Cell-Associated Antigen (GO:0042590). GO:0042590 is a biological process from the Gene Ontology. DECREASED Activation of Latent TGF-beta at the cDC1-T Cell Interface GO:0030511 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Activation of Latent TGF-beta at the cDC1-T Cell Interface (GO:0030511). GO:0030511 is a biological process from the Gene Ontology. INCREASED Induction of Antigen-Specific FOXP3+ Tregs GO:0045591 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Induction of Antigen-Specific FOXP3+ Tregs (GO:0045591). GO:0045591 is a biological process from the Gene Ontology. INCREASED Peripheral T Cell Tolerance to Cell-Associated Antigen GO:0002458 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Peripheral T Cell Tolerance to Cell-Associated Antigen (GO:0002458). GO:0002458 is a biological process from the Gene Ontology. INCREASED MHC Class II-Mediated Antigen Presentation by cDC1s GO:0019886 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased MHC Class II-Mediated Antigen Presentation by cDC1s (GO:0019886). GO:0019886 is a biological process from the Gene Ontology. INCREASED Cross-Presentation of Cell-Associated Antigen GO:0042590 Gene Ontology (GO) Relation: this mechanism module involves this biological process This mechanism module involves increased Cross-Presentation of Cell-Associated Antigen (GO:0042590). GO:0042590 is a biological process from the Gene Ontology. INCREASED
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Notes

This is a mechanism module, not a specific disease. Disorder entries reference individual nodes via conforms_to (e.g. "cdc1_tolerogenic_maturation#Tolerogenic Maturation to CCR7+ Late-Mature cDC1s"). The key conformance target is that central_effector node — the disorder-agnostic, rate-limiting step every conformer funnels through. SPECIES SCOPE — READ BEFORE CONFORMING. The EPOR-cDC1 mechanism curated here is established entirely in mouse (conditional Epor, Itgb8 and MHCII deletion under Xcr1-Cre; Epor-tdTomato and Zbtb46-GFP reporters; allogeneic bone-marrow and heterotopic heart transplantation; B16F10-OVA and MC38-OVA tumours). The clinical total lymphoid irradiation / anti-thymocyte globulin regimen that motivates the model is used in human kidney transplantation, but no step of the EPOR-dependent chain has been demonstrated in human cDC1s. Do not curate a human disorder node as conforming to this module on the strength of this evidence alone; see the HUMAN_MODEL_MISMATCH discussion. A conforming node in a human disease entry needs its own human-derived evidence, or should be curated as a mechanistic_hypothesis with EMERGING status rather than as an asserted mechanism. Positive conformance to the central effector requires more than "a dendritic cell matured". It requires (i) cDC1 lineage specifically — not cDC2, plasmacytoid DC, or monocyte-derived DC, since EPOR responsiveness is cDC1-restricted in this system; (ii) uptake of cell-associated (dying-cell) antigen rather than soluble or microbial antigen; and (iii) a tolerogenic outcome — antigen-specific FOXP3+ Treg induction or demonstrated restraint of antigen-specific priming. CCR7 upregulation alone is not sufficient: CCR7+ maturation is the shared gateway to BOTH the tolerogenic and the immunogenic program, which is precisely the point of the EPOR switch, so a CCR7+ mregDC-like node without a tolerogenic readout does not conform. Disorder-specific substitutions conforming entries make: the dying-cell source (irradiated apoptotic lymphocytes; apoptotic tumour cells; homeostatic apoptotic cells in skin, lung or brain); the cDC1 compartment (splenic XCR1+CD8-alpha+ versus peripheral-lymph-node migratory XCR1+CD103+, which preferentially expresses EPOR); and the tolerated antigen (donor alloantigen, tumour antigen, self antigen). Relationship to neighbouring modules. This is NOT a duplicate of immune_checkpoint_blockade, which models the tumour-cell-intrinsic adaptive immune resistance arm (PD-L1 upregulation, T cell exhaustion); this module models the antigen-presenting-cell-intrinsic arm upstream of it, and a tumour entry may reasonably conform to both. It is likewise distinct from tumor_promoting_inflammation (myeloid inflammatory microenvironment, not cDC1 maturational state). The Aldh1a2 / retinoic-acid route to Treg induction is deliberately NOT curated as part of the chain: cDC1-restricted Aldh1a2 deletion did not impair chimerism or donor-specific Treg induction in this system, so integrin beta-8 rather than retinoic acid is the EPOR-controlled effector here.
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Discussions and Knowledge Gaps

2
Does the EPOR switch govern tolerogenic maturation of human cDC1s, or is it a mouse-specific feature of the systems in which it was discovered?
HUMAN MODEL MISMATCH OPEN human_model_mismatch_cdc1_epor_switch
Attached to: EPO-EPOR Signalling in cDC1s Tolerogenic Maturation to CCR7+ Late-Mature cDC1s
Every causal step in this module rests on mouse genetics — conditional Epor, Itgb8 and H2-Ab1 deletion under Xcr1-Cre, Epor-tdTomato and Zbtb46-GFP reporters, allogeneic bone-marrow and heterotopic heart transplantation, and transplantable B16F10-OVA and MC38-OVA tumours. The translational pull is real: the total lymphoid irradiation plus anti-thymocyte globulin regimen that frames the model is used in human kidney transplantation to achieve mixed chimerism and drug-free tolerance, and erythropoiesis-stimulating agents are widely used in humans, so a human counterpart of this mechanism would have immediate clinical consequences in both directions. But the pull is not evidence. Mouse and human cDC1s are identified by different surface programs (mouse XCR1+CD8-alpha+ or CD103+; human CD141/BDCA-3+), and EPOR expression on human cDC1s, its regulation by efferocytosis, and its control of ITGB8 have not been shown. This matters for curation because the mismatch is not a question of effect size but of whether the switch exists at all in humans; a human disease entry asserting conformance would be importing an unverified species assumption into an otherwise evidence-backed graph.
Proposed experiments: EPOR expression and efferocytosis-dependence on human cDC1s EPO-dependence of human cDC1 Treg induction and ITGB8 induction
Does therapeutic erythropoiesis-stimulating agent exposure in patients alter cDC1 tolerogenic programming, and could that contribute to outcomes in transplantation or oncology?
KNOWLEDGE GAP OPEN knowledge_gap_esa_exposure_and_cdc1_tolerance
Attached to: EPO-EPOR Signalling in cDC1s Antigen-Specific FOXP3+ Treg Induction and Restrained T Cell Priming
If the switch operates in humans, then erythropoiesis-stimulating agents — given routinely for anaemia of chronic kidney disease, in transplant recipients, and in oncology — would be acting on it as an unintended pharmacology, in the tolerogenic direction. That predicts opposite-signed effects in the two settings where these agents are most used: potentially favourable for graft tolerance, potentially unfavourable for anti-tumour immunity. This is stated here as an open question and explicitly NOT as a curated mechanism. The source study neither administered these agents to patients nor examined human tumour outcomes, and the existing clinical safety literature on erythropoiesis-stimulating agents and tumour progression was generated without reference to cDC1 biology and has its own confounding; connecting the two would require evidence that does not yet exist. Curators should not cite this module as support for a mechanistic claim about erythropoiesis-stimulating agent safety.
Proposed experiments: cDC1 phenotype in patients on erythropoiesis-stimulating agents

Used By Disorder Entries

0
No disorder entries currently reference this module via conforms_to.

Pathograph

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Pathograph: causal mechanism network for cDC1 Tolerogenic Maturation Module Interactive directed graph showing how this shared module's pathophysiology nodes connect.

Pathophysiology

6
Efferocytic Uptake of Cell-Associated Antigen by cDC1s
trigger
cDC1s take up dying cells and their associated antigens by efferocytosis. This is the lineage-defining function that puts cDC1s in a position to determine the fate of responses to cell-associated (as opposed to soluble or microbial) antigen. The dying-cell source is what conforming disorder entries substitute: apoptotic lymphocytes generated by lymphodepleting conditioning, apoptotic tumour cells in the tumour microenvironment, or apoptotic cells cleared at homeostasis in peripheral tissue. Efferocytic load, together with circulating EPO, sets both the fraction of cDC1s expressing EPOR and the intensity of that expression, so this node is the input that scales the whole chain rather than a mere prerequisite.
Type 1 conventional dendritic cell (cDC1) CL:0000990 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves Type 1 conventional dendritic cell (cDC1), annotated with conventional dendritic cell (CL:0000990). CL:0000990 is a cell type from the Cell Ontology.
Apoptotic Cell Clearance (Efferocytosis) GO:0043277 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Apoptotic Cell Clearance (Efferocytosis), annotated with apoptotic cell clearance (GO:0043277). GO:0043277 is a biological process from the Gene Ontology. INCREASED
EPO-EPOR Signalling in cDC1s
amplifier
Erythropoietin receptor expressed on cDC1s binds erythropoietin and activates the AKT-mTOR, ERK and STAT5 cascades. This is the switch node of the module: EPOR is not a marker of a distinct cDC1 subset but a transcriptional program that cDC1s across the maturational continuum can enter, and its signalling output determines which maturational program follows. Responsiveness is cDC1-restricted — cDC2s in the same tissue show minimal pathway activation — which is why conformance requires cDC1 lineage specifically. Both ligand availability (circulating EPO, which rises with lymphodepleting conditioning and with tumour burden) and receptor abundance (driven by efferocytic load) are rate-setting, so the node is manipulable from either side; this is the basis of the treatment pattern below.
Erythropoietin Receptor Signalling in cDC1s GO:0038162 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Erythropoietin Receptor Signalling in cDC1s, annotated with erythropoietin-mediated signaling pathway (GO:0038162). GO:0038162 is a biological process from the Gene Ontology. INCREASED
Tolerogenic Maturation to CCR7+ Late-Mature cDC1s
central effector
Under EPOR signalling, efferocytic cDC1s progress along the maturational continuum to a late-mature CCR7+ state carrying a regulatory rather than a stimulatory program: increased integrin beta-8 (Itgb8), TGF-beta1, CCL22 and PD-L1 (Cd274), increased tolerance-associated genes, and reduced cross-presentation capacity. This is the key conformance target — the disorder-agnostic, rate-limiting step that every conforming disease funnels through, whatever the dying-cell source or anatomical compartment. Loss of EPOR both reduces the proportion of cells reaching this state and strips the regulatory program from the cells that do, so the node is defined by the program and not by CCR7 positivity alone. CCR7 upregulation is the shared gateway to the immunogenic route as well; a CCR7+ mregDC-like node without a tolerogenic readout does not conform.
CCR7+ late-mature tolerogenic cDC1 CL:0000841 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves CCR7+ late-mature tolerogenic cDC1, annotated with mature conventional dendritic cell (CL:0000841). CL:0000841 is a cell type from the Cell Ontology.
Late-Mature cDC1 Differentiation GO:0097029 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Late-Mature cDC1 Differentiation, annotated with mature conventional dendritic cell differentiation (GO:0097029). GO:0097029 is a biological process from the Gene Ontology. INCREASED Cross-Presentation of Cell-Associated Antigen GO:0042590 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased Cross-Presentation of Cell-Associated Antigen, annotated with antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590). GO:0042590 is a biological process from the Gene Ontology. DECREASED
Integrin alpha-V beta-8-Dependent Latent TGF-beta Activation
effector
Integrin alpha-V beta-8 on late-mature CCR7+ cDC1s binds the latency-associated peptide of latent TGF-beta and converts it to active TGF-beta at the cDC1-T cell interface. This makes TGF-beta availability local and contact-dependent rather than a diffuse cytokine signal, which is how an antigen-presenting cell can impose a regulatory fate specifically on the T cells it is engaging. cDC1-restricted deletion of Itgb8 reproduces the Treg-induction defect seen on loss of EPOR, placing integrin beta-8 causally downstream of the switch rather than merely correlated with it — though the resulting impairment of chimerism is less complete than with EPOR deletion, indicating integrin beta-8 carries much but not all of the EPOR effect.
Activation of Latent TGF-beta at the cDC1-T Cell Interface GO:0030511 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Activation of Latent TGF-beta at the cDC1-T Cell Interface, annotated with positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511). GO:0030511 is a biological process from the Gene Ontology. INCREASED
Antigen-Specific FOXP3+ Treg Induction and Restrained T Cell Priming
consequence
The terminal state of the tolerogenic arm: antigen-specific CD4+FOXP3+ regulatory T cells are induced from naive precursors and preexisting Tregs are expanded, while CD8+ cross-priming and CD4+ priming against the same cell-associated antigen are held below threshold. The tolerance is antigen-specific rather than global immunosuppression, and it operates even at homeostatic EPO levels. Whether this outcome is beneficial or harmful is entirely context-dependent and is the reason the module serves opposite clinical goals: in transplantation and autoimmunity it is durable donor-specific or self-antigen-specific tolerance; in cancer it is tumour-antigen-specific tolerance with intratumoural Treg accumulation and blunted anti-tumour CD8+ T cell immunity. Conforming entries name the antigen and state which of these two readings applies.
Antigen-specific CD4+FOXP3+ regulatory T cell CL:0000815 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves Antigen-specific CD4+FOXP3+ regulatory T cell, annotated with regulatory T cell (CL:0000815). CL:0000815 is a cell type from the Cell Ontology.
Induction of Antigen-Specific FOXP3+ Tregs GO:0045591 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Induction of Antigen-Specific FOXP3+ Tregs, annotated with positive regulation of regulatory T cell differentiation (GO:0045591). GO:0045591 is a biological process from the Gene Ontology. INCREASED Peripheral T Cell Tolerance to Cell-Associated Antigen GO:0002458 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Peripheral T Cell Tolerance to Cell-Associated Antigen, annotated with peripheral T cell tolerance induction (GO:0002458). GO:0002458 is a biological process from the Gene Ontology. INCREASED
Immunogenic cDC1 Maturation and Enhanced T Cell Priming
adaptive escape
The reciprocal branch of the switch, and the reason EPOR is described as a switch rather than an amplifier. When EPOR signalling is absent, efferocytic cDC1s do not simply fail to become tolerogenic — they mature along an actively immunogenic route, upregulating MHC class II- and class I-mediated antigen presentation, cross-presentation and costimulation (CD40, CD80, CD86) while downregulating PD-L1. In tumours this branch increases generation of precursor exhausted tumour-antigen-specific CD8+ T cells in tumour-draining lymph nodes, supports their maintenance intratumourally, reduces intratumoural Tregs, restrains tumour growth and improves the efficacy of PD-1 blockade. This node is curated as the mechanistic rationale for the tolerance-breaking treatment pattern below; it is reached experimentally by cDC1-restricted EPOR deletion, so a disorder node should conform to it only where an equivalent loss-of-EPOR state is actually demonstrated, not merely where cDC1s appear immunogenic.
Immunogenically matured cDC1 CL:0000841 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves Immunogenically matured cDC1, annotated with mature conventional dendritic cell (CL:0000841). CL:0000841 is a cell type from the Cell Ontology.
MHC Class II-Mediated Antigen Presentation by cDC1s GO:0019886 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased MHC Class II-Mediated Antigen Presentation by cDC1s, annotated with antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886). GO:0019886 is a biological process from the Gene Ontology. INCREASED Cross-Presentation of Cell-Associated Antigen GO:0042590 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased Cross-Presentation of Cell-Associated Antigen, annotated with antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590). GO:0042590 is a biological process from the Gene Ontology. INCREASED