Immunogenetics of Disease-Causing Inflammation in Sarcoidosis

Clinical Reviews in Allergy & Immunology
Johan GrunewaldAnders Eklund

Abstract

Sarcoidosis is a systemic inflammatory disorder characterised by tissue infiltration by mononuclear phagocytes and lymphocytes with associated non-caseating granuloma formation. Originally described as a disorder of the skin, sarcoidosis can involve any organ with wide-ranging clinical manifestations and disease course. Recent studies have provided new insights into the mechanisms involved in disease pathobiology, and we now know that sarcoidosis has a clear genetic basis largely involving human leukocyte antigen (HLA) genes. In contrast to Mendelian-monogenic disorders--which are generally due to specific and relatively rare mutations often leading to a single amino acid change in an encoded protein--sarcoidosis results from genetic variations relatively common in the general population and involving multiple genes, each contributing an effect of varying magnitude. However, an individual may have the necessary genetic profile and yet the disease will not develop unless an environmental or infectious factor is encountered. Genetics appears also to contribute to the huge variability in clinical phenotype and disease behaviour. Moreover, it has been established that sarcoidosis granulomatous inflammation is a highly polarized T h...Continue Reading

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Mar 11, 2016·Medicina clínica·Juan Mañá
Jun 2, 2016·American Journal of Respiratory and Critical Care Medicine·Steve N GeorasElliott D Crouser
Jul 17, 2016·Clinical Reviews in Allergy & Immunology·Carlo Selmi
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