Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children

Clin Immunol. 2024 Jul:264:110252. doi: 10.1016/j.clim.2024.110252. Epub 2024 May 12.

Abstract

Children with Multisystem Inflammatory Syndrome in Children (MIS-C) can present with thrombocytopenia, which is a key feature of hemophagocytic lymphohistiocytosis (HLH). We hypothesized that thrombocytopenic MIS-C patients have more features of HLH. Clinical characteristics and routine laboratory parameters were collected from 228 MIS-C patients, of whom 85 (37%) were thrombocytopenic. Thrombocytopenic patients had increased ferritin levels; reduced leukocyte subsets; and elevated levels of ASAT and ALAT. Soluble IL-2RA was higher in thrombocytopenic children than in non-thrombocytopenic children. T-cell activation, TNF-alpha and IFN-gamma signaling markers were inversely correlated with thrombocyte levels, consistent with a more pronounced cytokine storm syndrome. Thrombocytopenia was not associated with severity of MIS-C and no pathogenic variants were identified in HLH-related genes. This suggests that thrombocytopenia in MIS-C is not a feature of a more severe disease phenotype, but the consequence of a distinct hyperinflammatory immunopathological process in a subset of children.

Keywords: COVID-19; HLH; Immune dysregulation; MIS-C; SARS-CoV-2.

MeSH terms

  • Adolescent
  • COVID-19 / blood
  • COVID-19 / complications
  • COVID-19 / immunology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic* / blood
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphohistiocytosis, Hemophagocytic* / immunology
  • Male
  • Phenotype
  • Proteomics
  • Systemic Inflammatory Response Syndrome* / blood
  • Systemic Inflammatory Response Syndrome* / immunology
  • Thrombocytopenia* / blood
  • Thrombocytopenia* / immunology

Supplementary concepts

  • pediatric multisystem inflammatory disease, COVID-19 related