Hematologic abnormalities in Aicardi Goutieres Syndrome.

ABSTRACT:

Background

Because of the broad clinical spectrum, heritable autoinflammatory diseases present a management and therapeutic challenge. The most common genetic interferonopathy, Aicardi Goutières Syndrome (AGS), is associated with early onset neurologic disability and systemic inflammation. The chronic inflammation of AGS is the result of dysregulation of interferon (IFN) expression by one of nine genes within converging pathways. While each AGS subtype shares common features, distinct patterns of severity and potential for systemic complications amongst the genotypes are emerging. Multilineage cytopenias are a potentially serious, but poorly understood, complication of AGS. As immunomodulatory treatment options are developed, it is important to characterize the role of the disease

SUBMITTER: Adang LA 

PROVIDER: S-EPMC9357135 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature