Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients <45 years of age
Flow Cytometry
Canale-Smith syndrome
CD4/CD8 negative
DNT (Double Negative T-Cells)
Double negative T cells (DNT)
Alpha/Beta positive
Whole Blood EDTA
It is recommended that specimens arrive within 24 hours of draw.
Samples arriving on the weekend and observed holidays may be canceled.
Ordering physician name and phone number are required.
For serial monitoring, we recommend that specimen draws be performed at the same time of day.
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.
0.5 mL
Gross hemolysis | Reject |
Gross lipemia | Reject |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood EDTA | Ambient (preferred) | 72 hours | PURPLE OR PINK TOP/EDTA |
Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients <45 years of age
Autoimmune lymphoproliferative syndrome (
Genetic defects in the apoptosis (programmed cell death) pathway have
The following molecular
| Molecular/Genetic Defect in Apoptosis |
| CD95 (FAS) mutations(1) |
Type Ib | Heterozygous CD95L (FASLG) mutations(1) |
Type Ic | Homozygous CD95L (FASLG) mutation(2) |
Type II | CASP8 or CASP10 mutations(1,3) |
Type III | Unknown(1,3) |
Patients with
Several other diseases can present with an ALPS-like phenotype,
Alpha beta TCR+DNT cells
2-18 years: <2%
19-70+ years: <3%
Reference values have not been established for patients that are less than 24 months of age.
Alpha beta TCR+DNT cells
2-18 years: <35 cells/mcL
19-70+ years: <35 cells/mcL
Reference values have not been established for patients that are less than 24 months of age.
Alpha beta TCR+DNT B220+ cells
2-18 years: <0.4%
19-70+ years: <0.3%
Reference values have not been established for patients that are less than 24 months of age.
Alpha beta TCR+DNT B220+ cells
2-18 years: <7 cells/mcL
19-70+ years: <6 cells/mcL
Reference values have not been established for patients that are less than 24 months of age.
The presence of increased circulating T cells (CD3+) that are negative
The laboratory finding of increased alpha beta TCR+DNT cells is
If the percent of the absolute count of either the alpha beta TCR+DNT cells or alpha beta TCR+DNT B220+ cells is abnormal, additional testing is indicated. All abnormal alpha beta TCR+DNT cell results should be confirmed (for
This test is typically not indicated in older adults. For questions about appropriate test selection, call 800-533-1710.
The sole presence of increased alpha beta TCR+DNT B220+ cells is not sufficient for a diagnosis of autoimmune lymphoproliferative syndrome (ALPS); additional testing is required to confirm a diagnosis of
1. Worth A, Thrasher AJ, Gaspar HB: Autoimmune lymphoproliferative
2. Del-Rey M, Ruiz-Contreras J, Bosque A, et al: A homozygous Fas
3. Salmena L, Hakem R: Caspase-8 deficiency in T-cells leads to a
4. Blessing JJH, Brown MR, Dale JK, et al: TCR alpha beta+ CD4-CD8-
5. Bleesing JJH, Janik JE, Fleisher TA: Common expression of an
This assay uses a 5-color, single-platform method with a 2-tube panel stained for the following antibodies: CD3, CD4, CD8, CD45, alpha beta TCR, and B220. The sample is stained with the antibody cocktail and incubated in the dark at room temperature for 20 minutes. Following incubation, the samples are treated with BD lysing solution to lyse the RBCs, followed with a wash step using BD FACS wash buffer. The cells are resuspended in 1% paraformaldehyde and analyzed by flow cytometry. The different subsets are expressed as a percent of CD3 T cells, and the absolute counts of all subsets are expressed as cells/mcL.(Unpublished Mayo method; Bleesing JJH, Brown MR, Dale JK, et al: TCR alpha beta + CD4-CD8- T-cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol 2001;100[3]:314-324)
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 x2
86359
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
ALPS | ALPS Screen | In Process |
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.
|
---|---|---|
28905 | Absolute TCR+DNT B220+ | 88053-4 |
23974 | alpha/beta-TCR DNT | 34963-9 |
28904 | % TCR+DNT B220+ | 88052-6 |
23973 | %alpha/beta-TCR DNT | 34962-1 |
23975 | Interpretation | 69052-9 |