Clinical Information

Dendritic cells (DC) play a critical role in both innate and adaptive immune responses. DC include 2 major subsets: myeloid (or conventional) dendritic cells and plasmacytoid dendritic cells.

Myeloid DC can capture and present antigens to CD4+ T cells and cross-present them to CD8+ T cells. They are also a source of inflammatory cytokines.

Plasmacytoid DC take part in priming of antiviral T cells and are the major source of type I interferons; as such they act as a primary defense against viremia.

Monocytes are the archetypal myeloid mononuclear cells. Although human monocytes do have phenotypic heterogeneity, the majority are CD14+ and are classified as classical or inflammatory monocytes.

The list of conditions where this test can be used as part of the assessment include, but are not limited to, GATA-binding protein 2 deficiency, IKZF1 deficiency, IRF8 deficiency, STAT3 gain-of-function disease, HYOU1 deficiency, reticular dysgenesis due to AK2 variants, WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), dedicator of cytokinesis 8 (DOCK8) deficiency, IRF7 deficiency, and Hermansky-Pudlak syndrome type II. In addition, unexplained monocytopenia can be a relevant clue in detecting DC deficiency.