- Patient Preparation
- Lavender Hemogard (EDTA), pink Hemogard (K2EDTA), or green Hemogard (sodium or lithium heparin). Hemogard tubes are preferred for laboratory safety.
- Specimen Preparation
- Transport 4 mL whole blood. (Min: 0.5 mL)
- Storage/Transport Temperature
- CRITICAL ROOM TEMPERATURE.
- Unacceptable Conditions
- Frozen or refrigerated specimens. Specimens older than 72 hours in EDTA or 48 hours in heparin. Clotted or hemolyzed specimens.
New York State Clients: Specimens collected in heparin. Frozen or refrigerated specimens. EDTA specimens older than 30 hours. Clotted or hemolyzed specimens.
- Specimens must be analyzed within 72 hours of collection in EDTA and within 48 hours of collection in heparin. Some medications may affect immunophenotyping results and should be listed on the patient test request form.
New York State Clients: Only EDTA specimens may be submitted and must be analyzed within 30 hours of collection.
- Ambient: 72 hours in EDTA, 48 hours in heparin; Refrigerated: Unacceptable; Frozen: Unacceptable
New York State Clients: EDTA: Ambient: 30 hours, Refrigerated: Unacceptable; Frozen: Unacceptable
|Components||Age: 0-11 months||Age: 12-23 months||Age: 2 years and older|
|% CD2||55-88 %||55-88 %||73-91 %|
|Absolute CD2||3800-5300 cells/µL||3100-4200 cells/µL||700-2600 cells/µL|
|% CD3||58-85 %||53-81 %||62-87 %|
|Absolute CD3||2170-6500 cells/µL||1460-5440 cells/µL||570-2400 cells/µL|
|% HLA-DR||11-45 %||11-45 %||8-24 %|
|Absolute HLA-DR||430-3300 cells/µL||430-3300 cells/µL||100-640 cells/µL|
|% CD4||38-62 %||31-54 %||32-64 %|
|Absolute CD4||1580-4850 cells/µL||1020-3600 cells/µL||430-1800 cells/µL|
|% CD45RA||15-70 %||15-70 %||5-37 %|
|Absolute CD45RA||200-3400 cells/µL||200-3400 cells/µL||130-1100 cells/µL|
|% CD45RO||5-30 %||5-30 %||12-38 %|
|Absolute CD45RO||50-1500 cells/µL||50-1500 cells/µL||220-1000 cells/µL|
|% CD8||16-34 %||16-38 %||15-46 %|
|Absolute CD8||680-2470 cells/µL||570-2230 cells/µL||210-1200 cells/µL|
|% CD19||11-45 %||11-45 %||6-23 %|
|Absolute CD19||430-3300 cells/µL||430-3300 cells/µL||91-610 cells/µL|
|% NK-cells||3-19 %||3-19 %||4-26 %|
|Absolute NK-cells||80-340 cells/µL||80-340 cells/µL||78-470 cells/µL|
X-linked hypogammaglobulinemia (X-linked agammaglobulinemia, Bruton's agammaglobulinemia) is caused by defective B-cell maturation secondary to mutations in the btk (Bruton's/B-cell tyrosine kinase) gene. T-cells (CD2, CD3) are normal or increased in number, and the CD4:CD8 ratio is normal or decreased. Most of the CD4 cells express the CD45RA antigen characteristic of naive rather than memory cells. B-cells (CD19, HLA-DR) are severely decreased or absent in the peripheral blood.
X-linked hypogammaglobulinemia can be distinguished from transient hypogammaglobulinemia of infancy by the absence of B-cells. Transient hypogammaglobulinemia of infancy results from delayed capacity for immunoglobulin synthesis and spontaneously resolves with age.
Thymic aplasia (congenital thymic aplasia, DiGeorge syndrome) results in impaired T-cell maturation and function. B-cells (CD19, HLA-DR) and NK-cells (CD16/CD56) are normal but T-cells (CD2, CD3) are usually decreased with an elevated CD4:CD8 ratio. The clinical course is variable, ranging from "partial DiGeorge syndrome" to cases that resemble SCID.
SCID has multiple genetic causes, including mutations in the gamma chain of the interleukin 2 receptor and the purine degradation enzymes, adenosine deaminase, and nucleoside phosphorylase. In adenosine deaminase deficiency, both B-cells (CD19, HLA-DR) and T-cells (CD2, CD3) are decreased in the peripheral blood. In other forms of SCID, the lymphopenia is not as severe, but the lymphocyte count is usually less than 1,000/µL even though B-cells (CD19, HLA-DR) may be normal or increased. In contrast to thymic aplasia, any T-cells present may have an immature phenotype.
Major histocompatibility complex class II deficiency, bare lymphocyte syndrome, is caused by defective transcription of HLA class II genes; B-cells (CD19) and T-cells (CD2, CD3) are present in normal numbers, but HLA-DR is absent. The CD4+ cells are usually CD45RA+.
Common variable immunodeficiency (CVID) describes a heterogeneous group of disorders with defective antibody formation. B-cells (CD19, HLA-DR) and T-cells (CD2, CD3) are usually normal in number, although B-cells may be decreased when CVID occurs concurrently with systemic lupus erythematosus. The CD4:CD8 ratio may be normal or decreased.
Wiskott-Aldrich syndrome includes immunodeficiency with thrombocytopenia and eczema. Lymphopenia is usually present with a progressive decline in T-cells numbers. The CD4:CD8 ratio is normal. The gene is X-linked and encodes the Wiskott-Aldrich syndrome protein.
Immunophenotyping is generally not useful in characterizing selective IgA deficiency, IgG subclass deficiencies, the hyper IgM syndrome, or hyperimmunoglobulin E syndrome (Job's syndrome).
See Compliance Statement A: www.aruplab.com/CS
|Component Test Code*||Component Chart Name||LOINC|
|0095615||Lymphocyte Subset Panel 7 Information||48767-8|
|0095701||% Natural Killer Cells||32519-1|
|0095702||Absolute Natural Killer Cells||20604-5|
- Primary Immunodeficiency Profile