GENETIC AND IMMUNE DETERMINANTS OF SARCOIDOSIS

Abstract

Sarcoidosis is a heterogeneous inflammatory disease of unknown ethiology that may affect any organ, although intrathoracic engagement is almost universal. Sarcoidosis may present rather dramatically as an acute disease, which usually resolves either spontaneously or with treatment, while other patients have an insidious onset and a chronic/progressive disease course. The different clinical phenotypes have led to the suggestion that sarcoidosis may consist of several separate entities. Yet, the characteristic immune response eventually leading to granuloma formation indicates that a number of features are common to all subgroups of the disease. Through a classical candidate gene spectrum, several genes of importance for sarcoidosis have been identified, and in some cases such gene variants associate with distinct clinical phenotypes.