Chapter 37 : Genetics of Antibacterial Host Defenses

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This chapter reviews the well-characterized genetic syndromes of bacterial susceptibility with an eye toward specificity of the susceptibility, applicability of the defect to infections in the general population, and, where applicable, treatment. Defects in barriers involving the skin and lung and defects of leukocyte number, trafficking, and function are also considered in this chapter. The major protection afforded by the skin is due to the stratum corneum, which provides a multifunctional barrier retarding water loss and providing an antimicrobial barrier. Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene that encodes the major epithelial chloride channel. This chapter focuses on examples of innate immune defects, especially those involving phagocytic cells as mutations in the genes regulating the innate immune system have been very informative regarding the specific associations of genes and infections. Inherited neutropenias can occur in both autosomal recessive and dominant forms. Chronic granulomatous disease (CGD) is caused by defects in the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Chediak-Higashi syndrome (CHS) is characterized by oculocutaneous albinism, frequent pyogenic infections, neurologic abnormalities, and a relatively late-onset lymphoma-like accelerated phase. There are a growing number of genetic syndromes that predispose an individual to bacterial infections. They dissect the biologic pathways that are required, desirable, and dispensible for protection. The complexity of bacterial susceptibility is compounded by the extraordinary variability in bacteria themselves, as well as the ways in they are encountered.

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37
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Inherited neutropenias

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37
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Chronic granulomatous disease

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37
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Leukocyte adhesion defects

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37
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Mycobacterial susceptibility

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37
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IgE elevation syndromes

Citation: Holland S. 2011. Genetics of Antibacterial Host Defenses, p 473-482. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch37

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