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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



  Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by biallelic autoimmune regulator (AIRE) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity. In Jun 14, 2017, Ofer Zimmerman and others published an article in << Front. Immunology>> which title is “Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes”, their data show that, in contrast to patients withSTAT1 GOF mutations, APECED patients show a moderate but consistent and significant decrease in total STAT1 protein levels, associated with lower peak levels of pSTAT1 molecules after IFN-γ stimulation.

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