IDF Patient & Family Handbook for Primary Immunodeficiency ... - IDFA

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82 Laboratory Tests Major Categories of Tests continued the functional capacity of T-cells. Most frequently this is done by measuring the ability of the T-cells to respond to different types of stimuli including mitogens (e.g. phytohemaglutinin [PHA]) and antigens (e.g. tetanus toxoid, candida antigen). The T-cell response to stimuli can be measured by observing whether the T-cells begin to divide and grow (called proliferation) and/or whether they produce various chemical mediators called cytokines (e.g. gamma interferon). There are an increasing variety of functional tests that are available to evaluate T-cell function, all aimed at providing data that allows quantitative assessment of T-cell functional status. However, it remains somewhat difficult to interpret the diagnostic significance of T-cell functional data that falls in between the extremes of markedly diminished and entirely normal function. Many of the primary cellular deficiencies are associated with genetic defects. This is particularly true with severe combined immune deficiency (SCID) where more than 10 different genetic causes for SCID have been identified. These can all be evaluated using current technology for mutation analysis and this approach provides the most accurate means to establish the definitive diagnosis. Evaluation of Neutrophil Immunity The laboratory evaluation of the neutrophil begins by obtaining a series of white blood cell counts (WBC) with differentials. The WBC and differentials will determine if there is a decline in the absolute neutrophil count (neutropenia). This is the most common abnormal laboratory finding with a clinical history that suggests defective neutrophil immunity. More than one WBC is necessary to rule out cyclic neutropenia. A careful review of the blood smear is important to rule out certain diseases that are associated with abnormalities in the structure of the neutrophil, or the way it looks under the microscope. An elevated IgE level may also suggest the diagnosis of Job’s (hyper IgE) syndrome. If these initial screening tests of neutrophil numbers are normal, testing would then focus on two possible primary immune disorders: chronic granulomatous disease (CGD) and leukocyte adhesion deficiency (LAD). Both of these disorders have normal or elevated numbers of neutrophils and each of these disorders has distinctive features that can help to direct the appropriate evaluation. Laboratory testing to diagnose CGD relies on the evaluation of a critical function of neutrophils that kills certain bacteria and fungi—the creation of reactive oxygen. This leads to a process called the oxidative burst that can be measured using a number of different methods including a simple dye reduction test called the Nitroblue Tetrazolium (NBT) test. In addition, a more recent testing approach uses flow cytometry to measure the oxidative burst of activated neutrophils that have been preloaded with a specific dye (dihyrorhodamine 123 or DHR) referred to as the DHR test. There is a third evaluation used by some laboratories called a chemiluminescence test. The DHR test has been used for more than ten years, and it is extremely sensitive in making the diagnosis. As a result of its excellent performance, this test has become the standard in most laboratories supporting clinics that see CGD patients regularly. The best confirmation of the specific type of CGD is suggested by the results of the DHR test, but requires confirmation by either specifically evaluating for protein involved or its related gene mutation underlying the disease. Laboratory testing for the most common form of LAD Type 1 involves flow cytometry testing to determine the presence of a specific protein on the surface of neutrophils (and other leukocytes). This protein is part of a set of surface receptors that form the Beta-2 integrins, proteins that are necessary for normal neutrophil motility or movement. When absent or significantly decreased, the movement of neutrophils to sites of infection is hampered and produces a large increase in the number of these cells in the circulation. Laboratory Evaluation of Complement The finest screening test for deficiencies in the complement system is the total hemolytic complement assay or CH50. In situations with a defect in one complement component, the CH50 will be almost completely absent. Specialized complement laboratories can provide additional testing that will identify the specific complement component that is defective. There are some extremely rare conditions in which there are defects in another complement pathway. These can be screened for by using a functional test directed specifically at this pathway, the AP50 test.
Laboratory Tests 83 Summary Laboratory testing plays a central role in the evaluation of the immune system. All results must be compared to appropriate reference ranges to avoid misinterpretation. An accurate medical history, family history and physical examination are critical in developing the best strategy for laboratory evaluation, and the orderly use of laboratory testing is strongly recommended. This typically begins with screening tests, followed by more sophisticated (and costly) tests that are chosen based on the initial test results. The range of laboratory testing available to evaluate the immune system continues to expand. This has been driven in part by the recognition of new clinical syndromes associated with recurrent and or chronic infections. It is the direct link between the clinical findings and laboratory testing that has extended our understanding of immune deficiency diseases. The continuation of this trend and laboratory testing of the future will likely be even more sophisticated and help provide further answers to the underlying basis of the expanding range of primary immunodeficiencies.
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Patient & Family Handbook For Prima
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Patient & Family Handbook For Prima
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Patient and Family Handbook i Prefa
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Patient and Family Handbook iii Abo
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The Immune System and Primary Immun
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The Immune System And Primary Immun
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Common Variable Immune Deficiency c
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Common Variable Immune Deficiency 1
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X-Linked Agammaglobulinemia chapter
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X-Linked Agammaglobulinemia 17 Clin
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Selective IgA Deficiency chapter 4
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Selective IgA Deficiency 21 Clinica
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Severe Combined Immunodeficiency ch
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Severe Combined Immunodeficiency 25
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Page 39 and 40: Chronic Granulomatous Disease 31 De
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Page 43 and 44: Chronic Granulomatous Disease 35 Tr
Page 45 and 46: Wiskott-Aldrich Syndrome 37 Definit
Page 47 and 48: Wiskott-Aldrich Syndrome 39 Maligna
Page 49 and 50: Wiskott-Aldrich Syndrome 41 Treatme
Page 51 and 52: Hyper IgM Syndrome 43 Definition of
Page 53 and 54: Hyper IgM Syndrome 45 Treatment of
Page 55 and 56: DiGeorge Syndrome 47 Definition of
Page 57 and 58: DiGeorge Syndrome 49 Therapy for Di
Page 59 and 60: IgG Subclass Deficiency and Specifi
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Page 63 and 64: Ataxia Telangiectasia 55 Definition
Page 65 and 66: Ataxia Telangiectasia 57 General Tr
Page 67 and 68: Hyper IgE Syndrome 59 Definition of
Page 69 and 70: Hyper IgE Syndrome 61 Inheritance o
Page 71 and 72: Complement Deficiencies 63 Definiti
Page 73 and 74: Complement Deficiencies 65 Treatmen
Page 75 and 76: Other Important Primary Immunodefic
Page 77 and 78: Other Important Primary Immunodefic
Page 79 and 80: Inheritance chapter 15 Many disease
Page 81 and 82: Inheritance 73 Types of Inheritance
Page 83 and 84: Inheritance 75 Types of Inheritance
Page 85 and 86: Inheritance 77 Reproductive Options
Page 87 and 88: Laboratory Tests chapter 16 Laborat
Page 89: Laboratory Tests 81 Major Categorie
Page 93 and 94: General Care 85 General Health Meas
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Page 101 and 102: Specific Medical Therapy 93 Introdu
Page 103 and 104: Specific Medical Therapy 95 General
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Health Insurance 133 LIFETIME MAXIM
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Glossary 135 Gamma globulins: The p
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Glossary 137 Sepsis: An infection o
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Reference 139 NIH Clinical Trials w
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Reference 141 International Patient
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Reference 143 Manufacturing Compani
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Reference 145 Books For Youth Balkw
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