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Skin and soft tissue infections 

Skin and soft tissue infections
Chapter:
Skin and soft tissue infections
DOI:
10.1093/med/9780198729228.003.0033
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date: 26 June 2019

Primary immunodeficiency disorders (PIDs) are rare, but important, genetic disorders of the immune system, rendering patients susceptible to infections. Delays in diagnosis can result in permanent end-organ damage or death, and early diagnosis significantly improves patient outcome. Identification of appropriate patients for investigation of the immune system is therefore critical. The hallmarks of PID are an increased frequency of infections, infections with unusual organisms (opportunistic infections), or unusually severe infections with typical organisms. The pattern of infections and other clinical features usually suggests the component of the immune system affected and should inform targeted investigations. Screening investigations focus on identifying whether or not there is an immunodeficiency by quantifying and testing the function of individual components of the immune system. Early liaison with a specialist immunology laboratory or clinical immunology services is essential for a rapid and efficient diagnosis. Recent advances in genomic medicine, particular next-generation sequencing, have resulted in a large expansion in the identification of genetic causes of PID, and over 190 monogenic genetic disorders have been identified. This technology has also impacted on clinical diagnostics, with high-throughput, targeted DNA enrichment and parallel sequencing techniques allowing the sequencing of over 90 genes simultaneously. Greater availability of whole-exome sequencing has facilitated the identification of very rare conditions and novel genetic disorders. Polymerase chain reaction techniques for identifying severe PID on dried blood spots have now been optimized, and newborn screening for these disorders has now been introduced in several countries.

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