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Chapter 18 : Immunodeficiency Diseases

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Abstract:

The occurrence of repeated or unusual infections in an individual may reflect a deficiency in defense mechanisms against infection. Primary immunodeficiencies are due to inherited genetic abnormalities that result in failure of maturation or function of cells or components of the immune system. Understanding of heritable human immunodeficiency diseases has been aided by a number of genetic defects in the mouse that produce effects similar to those of human immunodeficiencies. A listing of complement deficiencies is given in this chapter. Secondary immunodeficiencies may result from naturally occurring disease processes or subsequent to the administration of suppressive agents. Infectious diseases produce a generalized debilitation or may be associated with a selective “anergy” to the infectious agent. Surgery is an immunosuppressive event that is intensified if the patient has an underlying disease, trauma, or complications that may contribute to suppression. Chronic fatigue syndrome is a complex of clinical findings with no clear pathogenesis associated with a variety of infectious agents. A summary of the laboratory evaluation of immune deficiency disease, exclusive of testing for specific genetic changes, is given in this chapter. Treatment of immune deficiency diseases may be divided into three general approaches: (i) treatment of the infectious agent by antibiotics, (ii) treatment of the underlying disease, if present, and (iii) replacement of the immune defect. Replacement of the immune defect is presented in more detail in this chapter. Passive immunoglobulin is the most effective maintenance procedure for patients with hypogammaglobulinemia, supplemented with antibiotics to cover specific infections.

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Figures

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Figure 18.1

Serum immunoglobulin levels during normal life. The newborn human has high levels of serum IgG because of maternal transfer of IgG across the placenta. Colostrum provides additional immunoglobulin, particularly gastrointestinal IgA. During infancy, serum IgM becomes elevated within 1 month, serum IgG becomes elevated between 4 and 8 months, and serum IgA rises gradually over the first 10 years of life because of synthesis by the child. Neonates also have decreased cellular immune responses even though the CD4+ T-cell count may be >1,500/mm3, most likely owing to immature immune regulation.

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Image of Figure 18.2
Figure 18.2

Purine metabolism and immunodeficiencies.

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Figure 18.3

Schematic drawing of steps in phagocytosis and postulated levels of defects in phagocytic disorders. (1) Opsonization: aggregated Fc, C3b (defects in antibody, complement, or mannose-binding lectin). (2) Recognition through receptors and patching (defect in adhesion molecules). (3) Ingestion. Cation influx stimulates transduction of hexose monophosphate shunt and conversion of O2 to H2O2 (defect in chronic granulomatous disease). (4) Specific granule formation. A congenital lack of granules precludes intracellular digestion. (5) Fusion of lysosome and phagosome to form a phagolysosome (defect in Chediak-Higashi syndrome), a microtubule defect. (6) Digestion of bacteria in a phagolysosome (defect in myeloperoxidase deficiency).

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Image of Figure 18.4
Figure 18.4

Clinical laboratory evaluation of immunodeficiencies.

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Tables

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Table 18.1

Characteristics of infections associated with immunodeficiency diseases

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Table 18.2

Human primary immunodeficiencies a

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.3

Some immunodeficiency mutations in mice

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.4

Clinical symptoms and expression of diseases associated with defects in purine metabolism

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Table 18.5

Common variable immunodeficiency a

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Table 18.6

Complement deficiencies a

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.7

Mechanism of action of immunosuppressive agents a

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.8

Some nosocomial pathogens in the immunocompromised host a

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
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Table 18.9

Commercially available licensed immunoglobulin preparations for infectious diseases

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.10

Findings in acute and chronic graft-versus-host disease

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18
Generic image for table
Table 18.11

Some diseases treated by gene transfer using bone marrow cells

Citation: Sell S. 2001. Immunodeficiency Diseases, p 556-589. In Immunology, Immunopathology, and Immunity, Sixth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818012.ch18

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