Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development
This test has not been validated for the diagnosis of hematologic malignancies.
This test enumerates plasmacytoid dendritic cells, myeloid dendritic cells, and classical monocytes.
It can be used as part of the diagnostic assessment of patients suspected of defects in innate immunity, particularly those in monocyte and dendritic cell development, which can manifest in isolation or as part of a broader clinical phenotype.
Flow Cytometry
Innate
Myeloid dendritic cells
Conventional dendritic cells
Plasmacytoid dendritic cells
Classical Monocytes
Non-Classical Monocytes
WB Sodium Heparin
Send specimen Monday through Thursday only. Specimen must arrive within 24 hours of collection and by 10 a.m. on Friday. Collect and package specimen as close to shipping time as possible. Ship specimen overnight.
Samples arriving on the weekend and observed holidays may be canceled.
Ordering healthcare professional name and phone number are required.
Container/Tube: Green top (sodium heparin)
Specimen Volume: 3 mL
Collection Instructions: Send whole blood specimen in original tube. Do not open tube. Do not aliquot.
1 mL
Gross hemolysis | Reject |
Clotted | Reject |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
WB Sodium Heparin | Ambient | 36 hours | GREEN TOP/HEP |
Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development
This test has not been validated for the diagnosis of hematologic malignancies.
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.
The appropriate reference values will be provided on the report.
Interpretive comments will be provided, where applicable, to complement the reported plasmacytoid dendritic cells, myeloid (or conventional) dendritic cells, and monocyte counts, and their respective reference ranges.
Plasmacytoid dendritic cells, myeloid (or conventional) dendritic cells, and monocyte counts should be interpreted in the context of the patient's clinical presentation and in conjunction with other laboratory findings.
The full range of immune defects caused by dendritic cell (DC) deficiency is not yet established. Therefore, not all instances of decreased dendritic cell count can be attributed to an already defined condition.
Reports of a decrease in DC or monocyte counts in patients with a particular deficiency do not necessarily extend to every individual with that deficiency. This can be due to variable expressivity among patients, with no apparent genotype-phenotype correlation, as in the case of GATA-binding protein 2 deficiency, or because the prevalence of these findings and their potential association with specific variants in a particular gene have not been determined, for example in dedicator of cytokinesis 8 (DOCK8) and IRF8 deficiency.
1. Bigley V, Cytlak U, Collin M. Human dendritic cell immunodeficiencies. Semin Cell Dev Biol. 2019;86:50-61
2. Ciancanelli MJ, Huang SX, Luthra P, et al. Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015;348(6233):448-453
3. Cytlak U, Resteu A, Bogaert D, et al. Ikaros family zinc finger 1 regulates dendritic cell development and function in humans. Nat Commun. 2018;9(1):1239
4. Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656-2658
5. Haapaniemi EM, Fogarty CL, Keskitalo S, et al. Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J Allergy Clin Immunol. 2017;139(4):1391-1393
6. Haapaniemi EM, Kaustio M, Rajala HL, et al. Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. Blood. 2015;125(4):639-648
7. Hambleton S, Salem S, Bustamante J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365(2):127-138
8. Keles S, Jabara HH, Reisli I, et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy. J Allergy Clin Immunol. 2014;133(6):1753-1755
9. Pannicke U, Honig M, Hess I, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet. 2009;41(1):101-105
10. Prandini A, Salvi V, Colombo F, et al. Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency. Blood. 2016;127(26):3382-3386
11. Reizis B. Plasmacytoid dendritic cells: Development, regulation, and function. Immunity. 2019;50(1):37-50
12. Tassone L, Moratto D, Vermi W, et al. Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood. 2010;116(23):4870-4873
13. Vuckovic S, Gardiner D, Field K, et al. Monitoring dendritic cells in clinical practice using a new whole blood single-platform TruCOUNT assay. J Immunol Methods. 2004;284(1-2):73-87
The method consists of a whole blood lyse/no wash assay with a lab-developed polychromatic monoclonal antibody panel. Addition of flow count beads allows single-platform cellular quantitation reported as cells per microliter of blood. In this panel, plasmacytoid dendritic cells are defined as CD45(+), Lin2(neg), HLA-DR(+), CD123(hi); myeloid dendritic cells as CD45(+), Lin2(neg), HLA-DR(+), CD11c(+); and monocytes as CD45(+)/CD14(+-low). Lineage 2 (Lin2) includes CD3, CD14, CD19, CD20, CD56. Isotype controls to HLA-DR, CD11c, and CD123 are included in this 4-tube test.(Unpublished Mayo method)
Monday through Friday
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
86356 x 3
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
DCME | DC and Monocyte Enumeration, B | 104547-5 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
610368 | Monocytes (CD14+) | 104548-3 |
610369 | pDC (CD123+) | 104549-1 |
610370 | mDC (CD11c+) | 104550-9 |
610371 | DCME Comment | 48767-8 |