CINDY M.

MINASALBAS IMMUNODEFICIENCY DISORDERS

BSN-401

1. Primary (congenital) a. B-Lymphocyte deficiencies Hypogammaglobulinemia or agammaglobulinemia Common variable immunoglobulin deficiencies b. T-Lymphocytes deficiencies DiGeorge anomaly Chronic mucocutaneous candidiasis c. Combined T- and B-Lymphocyte deficiency 2. Secondary (acquired) immunodeficiency a. HIV infection and AIDS

LABORATORY AND DIAGNOSTIC PROCEDURE FOR IMMUNODEFICIENCY DISODERS

Complement levels in the blood, or other tests to measure substances released by the immune system Serum Protein electrophoresis (blood or urine) T (thymus derived) lymphocyte count Quantitative nephelometry

1. CBC
A complete blood count (CBC) test measures the following: The number of red blood cells (RBCs) The number of white blood cells (WBCs) The total amount of hemoglobin in the blood The fraction of the blood composed of red blood cells (hematocrit)

How the Test is Performed 1. Blood is typically drawn from a vein, usually from the inside of the elbow or the back of the hand. 2. The site is cleaned with germ-killing medicine (antiseptic).

3. The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood. 4. Next, the health care provider gently inserts a needle into the vein. The blood collects into an airtight vial or tube attached to the needle. The elastic band is removed from your arm. 5. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding. *In infants or young children, a sharp tool called a lancet may be used to puncture the skin and make it bleed. The blood collects into a small glass tube called a pipette, or onto a slide or test strip. A bandage may be placed over the area if there is any bleeding. How the Test Will Feel 1. When the needle is inserted to draw blood, you may feel moderate pain, though most people feel only a prick or a stinging sensation. Afterward there may be some throbbing or bruising. Why the Test is Performed The CBC test may be performed under many different conditions and to assess many different symptoms or diseases. The results can reflect problems with fluid volume (such as dehydration) or loss of blood. The test can reveal problems with RBC production and destruction, or help diagnose infection, allergies, and problems with blood clotting. MCV, MCH, and MCHC values reflect the size and hemoglobin concentration of individual cells, and are useful in diagnosing different types of anemia. Risks There is very little risk involved with having your blood taken. Other risks associated with having blood drawn are slight but may include: Excessive bleeding Fainting or feeling light-headed Hematoma (blood accumulating under the skin) Infection (a slight risk any time the skin is broken)

TEST

NORMAL VALUES
X1000 cells/mm (L) 9.0-30.0 9.4-34.0 5.0-19.5 6.0-17.5 5.5-15.5 4.5-13.5 4.5-11.0

INCREASED
Infectious diseases Inflammatory disease (such as rheumatoid arthritis or allergy) Leukemia Severe emotional or physical stress Tissue damage (such as burns) Stress Acute infection

DECREASED
Bone marrow failure (for example, due to infection, tumor or fibrosis) Presence of cytotoxic substance Autoimmune/collagenvascular diseases (such as lupus erythematosus) Disease of the liver or spleen Radiation exposure Viral diseases Some drugs (chemotherapy, antibiotics such as nafcillin, penicillin, and cephalosporins) Radiation therapy Adrenal corticosteroids and other immunosuppressive drugs Autoimmune diseases (lupus erythematosus) Severe malnutrition

Leukocyte (White Blood Cell) Birth 24 hours 1 month 1-3 years 4-7 years 8-13 years Adult

Neutrophils

3-5% (total WBC count)

Lymphocytes

25-33%

Monocytes

3-7%

Eosinophils 1-3%

Viral infection Mononucleosis Tuberculosis Chronic bacterial infections Lymphocytic leukemia Chronic Drug therapy: prednisone inflammatory disorders Tuberculosis Protozoan infections (malaria, Rocky mountain spotted) Chronic ulcerative colitis Allergic reactions Corticosteroid therapy (asthma, hay fever, or hypersensitivity to

Basophils

0-0.75%

a drug) Parasitic infestations (round worms) leukemia acute allergic reaction corticosteroid acute infections Low oxygen tension in the blood oCongenital heart disease oCor pulmonale oPulmonary fibrosis Polycythemia vera Dehydration (such as from severe diarrhea) Renal (kidney) disease with high erythropoietin production Blood loss oAnemia (various types) oHemorrhage Bone marrow failure (for example, from radiation, toxin, fibrosis, tumor) Erythropoietin deficiency (secondary to renal disease) Hemolysis (RBC destruction) Leukemia Multiple myeloma Malnutrition (nutritional deficiencies of iron, folate, vitamin B12, or vitamin B6)

Erythrocytes (Red Blood Cells) Cord 1-3 days 1 week 2 weeks 1 month 2 months 3-6 months 0.5-2 years 2-6 years 6-12 years 12- years (male) 12- years (female) Hemoglobin 1-3 days 2 months 6-12 years 12- years (male) 3.9-5.5 million/mm 4.0-6.6 million/mm 3.9-6.3 million/mm 3.6-6.2 million/mm 3.0-5.4 million/mm 2.7-4.9 million/mm 3.1-4.5 million/mm 3.7-5.3 million/mm 3.9-5.3 million/mm 4.0-5.2 million/mm 4.5-5.3 million/mm 4.1-5.1 million/mm

polycythemia 14.5-22.5 g/dL 9.0-14.0 g/dL 11.5-15.5 g/dL 13.0-16.0 g/dL

Anemia (various types) Blood loss

12- (female) Hematocrit 1 day 2 days 3 days 2 months 6-12 years 12- years (male)

12.0-16.0g/dL Dehydration oBurns oDiarrhea Polycythemia vera Low oxygen tension (smoking, congenital heart disease, living at high altitudes) Anemia (various types) Blood loss (hemorrhage) Bone marrow failure (for example, due to radiation, toxin, fibrosis, tumor) Hemolysis (RBC destruction) related to transfusion reaction Leukemia Malnutrition or specific nutritional deficiency Multiple myeloma Rheumatoid arthritis iron deficiency anemia lead poisoning

48-69% 48-75% 44-72% 28-42% 35-45% 37-49%

12- years (female)

36-46%

Mean Corpuscular Volume (MCV) 1-3 days 0.5-2 years 6-12 years 12- years (male) 12- years (female) Mean Corpuscular Hemoglobin (MCH) Birth 1-3 days 1 week-1 month 2 months 3-6 months 0.5-2 years 2-6 years 6-12 years 12- years Mean Corpuscular Hemoglobin Concentration (MCHC) Birth

95-121m 70-86 m 77-95 m 78-98 m 78-102 m

liver disease alcoholism pernicious anemia

rarely seen 31-37 pg/cell 31-37 pg/cell 28-40 pg/cell 26-34 pg/cell 25-35 pg/cell 23-31 pg/cell 24-30 pg/cell 25-33 pg/cell 25-35 pg/cell rarely seen 30-36 g Hg/dL

iron deficiency anemia

iron deficiency anemia

1-3 days 1-2 weeks 1-2 months 3 months-2 years 2- years Reticulocyte Count Infants Children 12- years (male) 12- years (female) Platelet Count Birth-1 week

RBC 29-37 g Hg/dL RBC 28-38 g Hg/dL RBC 29-37 g Hg/dL RBC 30-36 g Hg/dL RBC 31-37 g Hg/dL RBC

2-5% of RBCs 0.5-4% of RBCs 0.5-1% of RBCs 0.5-2.5% of RBCs malignant tumors idiopathic (unknown cause) polycythemia vera thrombocytopenic purpura viral infections AIDS Systemic lupus erythematosus Chemotherapy drugs Some types of anemias inflammation

84,000478,000/mm

Thereafter

150,000400,000/mm

ERYTHROCYTE SEDIMENTATION RATE (ESR) TEST Westergren Child Adult (male) Adult (female) NORMAL VALUE 0-10 mm/hour 0-15 mm/hour 0-20 mm/hour

Wintrobe Child Adult (male) Adult (female)

0-13 mm/hour 0-9 mm/hour 0-20 mm/hour

Drugs that may increase WBC counts include: Allopurinol Aspirin Chloroform Corticosteroids Epinephrine Heparin Quinine Triamterene Drugs that may lower your WBC count include: Antibiotics Anticonvulsants Antihistamines Antithyroid drugs Arsenicals Barbiturates Chemotherapy drugs Diuretics Sulfonamides

2. Quantitative nephelometry (Quantitative

immunoglobulins)
a test to quickly and accurately measure the specific level of certain proteins called immunoglobulins in your blood. Specifically, it looks for the proteins IgM, IgG, and IgA. How the Test is Performed 1. Blood is typically drawn from a vein, usually from the inside of the elbow or the back of the hand. 2. The site is cleaned with germ-killing medicine (antiseptic). 3. The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood. 4. Next, the health care provider gently inserts a needle into the vein. The blood collects into an airtight vial or tube attached to the needle. The elastic band is removed from your arm. 5. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.

*In infants or young children, a sharp tool called a lancet may be used to puncture the skin and make it bleed. The blood collects into a small glass tube called a pipette, or onto a slide or test strip. A bandage may be placed over the area if there is any bleeding. How to Prepare for the Test You may be asked not to eat or drink anything for 4 hours before the test. How the Test Will Feel When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. Considerations Nephelometry determines the total amount of each immunoglobulin but cannot distinguish specific antibodies. Other tests such as immunoelectrophoresis or immunofixation can be used to make these distinctions. Note: The normal values listed here-called a reference range-are just a guide. These ranges vary from lab to lab, and your lab may have a different range for whats normal. Immunoglobulins values IgA -found in the external body secretions such as saliva, sweat, tears, mucus, bile and 85-385 mg/dL colostrums -provides defenses against pathogens increased decreased

Chronic infections, especially involving the gastrointestinal tract Inflammatory bowel disease Myeloma

Agammaglobulinemia (very rare) Hereditary IgA deficiency Myeloma Protein-losing gastroenteropathy Agammaglobulinemia (very rare) Leukemia Myeloma Preeclampsia -kidney damage (nephritic syndrome)

IgG -occuring antibody in tha plasma -it freely diffuses across the placenta to supply passive immune protection to the fetus

Chronic infection (AIDS) or inflammation 565-1765 mg/dL Hyperimmunization IgG multiple myeloma Liver disease Rheumatoid

arthritis
IgM -effective in agglutinating antigen as well as lysing cell walls.

Infectious mononucleosis Lymphoma

Agammaglobulinemia (very rare) Leukemia

55-375 mg/dL Macroglobulinemia Myeloma Myeloma Rheumatoid arthritis

IgE -involved in immediate hypersensitivity reactions. -associated with allergy and parasitic infections.

Ataxia-telangiectasia Parasite infection Allergic reactions Asthma Atopic dermatitis Some types of cancer Multiple myeloma

3.

Serum protein electrophoresis (SPEP)

a test measures specific proteins in the blood to help identify some diseases Electrophoresis is a laboratory technique where the blood serum (the fluid portion of the blood after the blood has clotted) is placed on special paper treated with agarose gel and exposed to an electric current to separate the serum protein components into five classifications by size and electrical charge, those being serum albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins.

Why It Is Done Serum protein electrophoresis is most often done to: Screen for a disease such as multiple myeloma, macroglobulinemia, oramyloidosis. Find the cause of hypogammaglobulinemia (HGG) How To Prepare You do not need to do anything before you have this test.

Talk to your health professional about any concerns you have regarding the need for the test, its risks, how it will be done, or what the results may mean. To help you understand the importance of this test, fill out the medical test information form. How It Is Done The health professional drawing blood will: 1. Wrap an elastic band around your upper arm to stop the flow of blood. This makes the veins below the band larger so it is easier to put a needle into the vein. 2. Clean the needle site with alcohol. 3. Put the needle into the vein. More than one needle stick may be needed. 4. Attach a tube to the needle to fill it with blood. 5. Remove the band from your arm when enough blood is collected. 6. Apply a gauze pad or cotton ball over the needle site as the needle is removed. 7. Apply pressure to the site and then a bandage. What Affects the Test Reasons you may not be able to have the test or why the results may not be helpful include: High levels of lipids (hyperlipidemia). Iron deficiency anemia. Medicines, such as corticosteroids, birth control pills, aspirin, bicarbonates,chlorpromazine, neomycin, isoniazid, and sulfonamides (sulfa). Medicine used to treat cancer (chemotherapy). Pregnancy. What to Think About Electrophoresis on protein in urine may also be done, especially if the results of the serum protein electrophoresis test are abnormal. Normally very little protein is found in urine, but certain diseases (such as multiple myeloma) cause large amounts of protein to leak into the urine. Although abnormal protein levels may be found in many conditions (such as kidney disease, chronic liver disease, systemic lupus erythematosus, rheumatoid arthritis, or leprosy), serum protein electrophoresis is usually not done to diagnose these conditions. A special test can be done for one of the major parts of the alpha-1 globulin group (called alpha-1 antitrypsin). Alpha-1 antitrypsin inhibits enzymes in the lungs that break down protein. These enzymes can damage normal lung tissue and cause emphysema. A test for total serum protein is often done at the same time as serum protein electrophoresis. For more information, see the topic Total Serum Protein. Risks There is very little chance of a problem from having blood drawn from a vein.

You may get a small bruise at the site. You can lower the chance of bruising by keeping pressure on the site for several minutes. In rare cases, the vein may become swollen after the blood sample is taken. This problem is called phlebitis. A warm compress can be used several times a day to treat this. Ongoing bleeding can be a problem for people with bleeding disorders. Aspirin,warfarin (Coumadin), and other blood-thinning medicines can make bleeding more likely. If you have bleeding or clotting problems, or if you take blood-thinning medicine, tell your doctor before your blood sample is taken.

Serum protein electrophoresis Total serum Total serum High values protein protein amt in SI units
Albumin (adult) -Albumin
proteins keep the blood from leaking out of blood vessels. - helps carry some medicines and other substances through the blood and is important for tissue growth and healing. A disease of the immune system, such as systemic lupus erythematosus orrheumatoid arthritis. Cancer, such as leukemia, lymphoma, or multiple myeloma. Dehydration. Heart disease. Infection. Kidney disease. Liver disease. Pregnancy.

Low values
A disease of the immune system, such as systemic lupus erythematosus orrheumatoid arthritis. Cancer, such as leukemia, lymphoma, or multiple myeloma. Dehydration. Diseases that prevent the intestines from absorbing the nutrients from food, such as sprue or Crohn's disease. Heart disease. Infection. Kidney disease. Liver disease. Low thyroid levels (hypothyroidism). Lung disease, such as emphysema. Pregnancy. Severe burns. Starvation or severe dieting.

3.8-5.0 g/dL

38-50 g/dL

Alpha-1 globulin - High-density 0.1-0.3 g/dL lipoprotein (HDL), the "good" type of cholesterol

1-3 g/dL

Alpha-2 globulin - A protein called 0.6-1 g/dL haptoglobin, that binds with hemoglobin Beta globulin - Beta globulin proteins help carry 0.7-1.4 g/dL substances, such as iron, through the bloodstream and help fight infection Gamma globulin - also called antibodies. They help prevent and fight infection. Gamma globulins bind 0.7-1.6 g/dL to foreign substances, such as bacteria or viruses, causing them to be destroyed by the immune system

6-10 g/dL

7-14 g/dL

7-16 g/dL

4. T cell counts; CD4 count; CD3 count; T-lymphocyte count

a blood test that measures the number of T-lymphocytes (a type of white blood cell). How the Test is Performed 1. Blood is drawn from a vein on the inside of the elbow or the back of the hand. The puncture site is cleaned with antiseptic, and an elastic band is placed around the upper arm to apply pressure and restrict blood flow through the vein. This causes veins below the band to fill with blood. 2. A needle is inserted into the vein, and the blood is collected in an air-tight vial or a syringe. During the procedure, the band is removed to restore circulation. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding. 3. For an infant or young child, the area is cleansed with antiseptic and punctured with a sharp needle or a lancet. The blood may be collected in a pipette (small glass tube), on a slide, onto a test strip, or into a small container. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding. How to Prepare for the Test No special preparation is necessary. How the Test Will Feel When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. Why the Test is Performed A T-cell count of may be helpful in the diagnosis of immunodeficiency diseases and lymphocytic diseases. It is also used to monitor how well therapy for these types of diseases is working. *Lymphocytes are white blood cells that are part of the immune system. T lymphocytes (T-cells) act directly (cellular immunity) to fight diseases or organisms, stimulate B lymphocytes (helper T-cells), or suppress some B lymphocyte functions (suppressor T-cells). Risks Risks associated with having blood drawn are slight: Excessive bleeding Fainting or feeling light-headed Hematoma (blood accumulating under the skin) Infection (a slight risk any time the skin is broken) Multiple punctures to locate veins

Note: This test is often performed on people with altered immune systems. Therefore, the risk for infection may be somewhat greater than when blood is drawn from a person with a normal immune system. Considerations This test can be affected by: Stress Surgery Chemotherapy medications Corticosteroids Immunosuppressive medications X-rays

Test
Helper T-cells (absolute CD4+ or T4 count) Suppressor T-cells (absolute CD8+ or T8 count)

Normal results
more than 400/microliter, or 32-68% of lymphocytes 150-1000 per microliter

increased
Infectious mononucleosis (sometimes) Multiple myeloma Acute lymphocytic leukemia

Decreased
Congenital T-cell deficiency (rare) Congenital immunodeficiency disorders Acquired immunodeficiency disorders Leukemias Cancer Hodgkin's Acute viral infection Waldenstrom's macroglobulinemia AIDS Side effect of radiation therapy Aging

5. Human Immunodeficiency Virus (HIV) Test

test detects antibodies to HIVor the genetic material (DNA or RNA) of HIV in the blood or another type of sample. This determines whether an HIV infection is present (HIV-positive) Several tests can find antibodies or genetic material (RNA) to the HIV virus. These tests include:

a) Enzyme-linked immunosorbent assay (ELISA).

This test is usually the first one used to detect infection with HIV. If antibodies to HIV are present (positive), the test is usually repeated to confirm the diagnosis. If ELISA is negative, other tests are not usually needed. This test has a low chance of having a false result after the first few weeks that a person is infected.

b) Western blot.

This test is more difficult than the ELISA to perform, but it is done to confirm the results of two positive ELISA tests. This test finds either the RNA of the HIV virus or the HIV DNA in white blood cells infected with the virus. PCR testing is not done as frequently as antibody testing, because it requires technical skill and expensive equipment. This test may be done in the days or weeks after exposure to the virus. Genetic material may be found even if other tests are negative for the virus. The PCR test is very useful to find a very recent infection, determine if an HIV infection is present when antibody test results were uncertain, and screen blood or organs for HIV before donation.

c) Polymerase chain reaction (PCR).

Why It Is Done Detect an HIV infection. Testing is often done for people with risk factors for HIV infection and people who have symptoms of an HIV infection. Screen blood, blood products, and organ donors to prevent the spread of HIV. Screen pregnant women for HIV infection. Pregnant women who are infected with HIV and receive treatment are less likely to pass the infection on to their babies than are women who do not receive treatment. Find out if a baby born to an HIV-positive woman also is infected with HIV. PCRis often done in this case because the baby may get antibodies against HIV from the mother and yet not be infected. This test is not done to determine if a person has AIDS. A diagnosis of AIDS means a person is HIV-positive and other problems are present. How To Prepare You do not need to do anything before you have this test. - Before the test, it is important to tell your doctor how and where to contact you when your test results are ready. If your doctor has not contacted you within 1 to 2 weeks of your test, call and ask for your results. A test for HIV infection can't be done without your consent. Most doctors offer counseling before and after the test to discuss: o How the test is done, what the results mean, and any other tests that may be done. o How the diagnosis of an HIV infection may affect your social, emotional, professional, and financial outlooks. o The benefits of early diagnosis and treatment. How It Is Done The health professional drawing blood will: 1) Wrap an elastic band around your upper arm to stop the flow of blood. This makes the veins below the band larger so it is easier to put a needle into the vein. 2) Clean the needle site with alcohol. 3) Put the needle into the vein. More than one needle stick may be needed.

4) 5) 6) 7)

Attach a tube to the needle to fill it with blood. Remove the band from your arm when enough blood is collected. Apply a gauze pad or cotton ball over the needle site as the needle is removed. Apply pressure to the site and then a bandage.

How It Feels You may feel nothing at all from the needle puncture, or you may feel a brief sting or pinch as the needle goes through the skin. Some people feel a stinging pain while the needle is in the vein. But many people do not feel any pain (or have only minor discomfort) once the needle is positioned in the vein. The amount of pain you feel depends on the skill of the health professional drawing the blood, the condition of your veins, and your sensitivity to pain. Risks There is very little risk of complications from having blood drawn from a vein. o You may develop a small bruise at the puncture site. You can reduce the risk of bruising by keeping pressure on the site for several minutes after the needle is withdrawn. o In rare cases, the vein may become inflamed after the blood sample is taken. This condition is called phlebitis and is usually treated with a warm compress applied several times daily. o Continued bleeding can be a problem for people with bleeding disorders. Aspirin,warfarin (Coumadin), and other blood-thinning medicines can also make bleeding more likely. If you have bleeding or clotting problems, or if you take blood-thinning medicine, tell your health professional before your blood is drawn. What Affects the Test Using corticosteroids. Antibody testing during the seroconversion period. Having an autoimmune disease, leukemia, or syphilis. Drinking too much alcohol. HIV tests

Normal:

No HIV antibodies are found. Normal results are called negative. If an antibody test is done during the seroconversion period and is negative, repeat testing is needed. Most people have antibodies to HIV within 6 months after becoming infected. If a repeat test at 6 months is negative, there is no infection. A PCR test to look for genetic material does not detect any RNA or DNA of HIV.

Uncertain:

Test results do not clearly show whether a person has an HIV

infection. This is usually called an indeterminate result. It may occur before HIV antibodies develop or when some other type of antibody is interfering with the results. If this occurs, a PCR test, which detects HIV RNA or DNA, may be done to see if the virus is present. A person who still has indeterminate results for 6 months or longer is called "stable indeterminate" and is not considered to be infected with HIV. Abnormal: HIV antibodies are found. These results are called positive. A positive ELISA is repeated using the same blood sample. If two or more ELISA results are positive, they must be confirmed by a Western blot or IFA test. A PCR test finds genetic material (RNA or DNA) of HIV.
Results o ELISA results are usually available in 2 to 4 days. o Results of the other tests, such as the Western blot or IFA, take 1 to 2 weeks. ADDITIONAL

Flow cytometry and immunohistochemistry

is sometimes used to test the cells from bone marrow, lymph nodes, and blood samples. It is very helpful in determining the exact type of leukemia. The test checks for certain substances on the surface of cells that help identify what types of cells they are. The cells in the sample are treated with special antibodies (man-made versions of immune system proteins) that stick only to these substances. The cells are then passed in front of a laser beam.