Presumed functions and clinical relevance of the identified JAK-STAT pathway genes in HLH/MAS
| Gene . | Cytokines . | Presumed functions and clinical relevance in HLH/MAS . |
|---|---|---|
| PDGFRA | PDGF | PDGF is crucial for cell proliferation, survival, differentiation, chemotaxis, and migration.55,56 |
| PDGFRB | PDGF | PDGF is crucial for cell proliferation, survival, differentiation, chemotaxis, and migration.55,56 PDGFRB fusion is linked to chronic myeloproliferative disorders.56 |
| SOCS4 | IFN | SOCS4 inhibits IFN signaling.57 |
| PIAS4 | IFN | PIAS4 inhibits IFN signaling.58 |
| IL7R | IL-7 | IL-7 is induced by IFN-γ signaling.59, IL-7/IL-7R–mediated signaling disorder is associated with immunopathology.60, IL7R deficiency is combined with severe combined immunodeficiency.61 IL7R mutational activation predicts sensitivity to JAK inhibition.62 |
| IL27RA | IL-27 | IL-27 plays a critical role in immunity to EBV, revealed by a recent study on IL-27RA deficiency.63 |
| IL12RB1 | IL-12, IL-23 | IL-23 is implicated in the pathogenesis of IBD.64 IL-23 is involved in neutrophilic inflammation.65 |
| IL11RA | IL-11 | IL-11 protects cells from IFN-γ induced damage.66 |
| IL10RA | IL-10 | IL-10 protects cells from IFN-γ induced damage.67 IL10RA mutation is known for its role in IBD.68 |
| Gene . | Cytokines . | Presumed functions and clinical relevance in HLH/MAS . |
|---|---|---|
| PDGFRA | PDGF | PDGF is crucial for cell proliferation, survival, differentiation, chemotaxis, and migration.55,56 |
| PDGFRB | PDGF | PDGF is crucial for cell proliferation, survival, differentiation, chemotaxis, and migration.55,56 PDGFRB fusion is linked to chronic myeloproliferative disorders.56 |
| SOCS4 | IFN | SOCS4 inhibits IFN signaling.57 |
| PIAS4 | IFN | PIAS4 inhibits IFN signaling.58 |
| IL7R | IL-7 | IL-7 is induced by IFN-γ signaling.59, IL-7/IL-7R–mediated signaling disorder is associated with immunopathology.60, IL7R deficiency is combined with severe combined immunodeficiency.61 IL7R mutational activation predicts sensitivity to JAK inhibition.62 |
| IL27RA | IL-27 | IL-27 plays a critical role in immunity to EBV, revealed by a recent study on IL-27RA deficiency.63 |
| IL12RB1 | IL-12, IL-23 | IL-23 is implicated in the pathogenesis of IBD.64 IL-23 is involved in neutrophilic inflammation.65 |
| IL11RA | IL-11 | IL-11 protects cells from IFN-γ induced damage.66 |
| IL10RA | IL-10 | IL-10 protects cells from IFN-γ induced damage.67 IL10RA mutation is known for its role in IBD.68 |
EBV, Epstein-Barr virus; IBD, inflammatory bowel disease; IL-7R, IL-7 receptor.