Article Abstract

The prostate-specific protein, transglutaminase 4 (TG4), is an autoantigen associated with male subfertility

Authors: Siiri E. Iismaa

Abstract

Autoimmune polyglandular syndrome type 1 (APS1) is a rare autoimmune disease that affects multiple endocrine glands. It is a monogenic autosomal recessive disorder caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene located on human chromosome 21q22.3. AIRE is a transcription factor that is expressed in medullary thymic epithelial cells (mTECs) (1) and extrathymic Aire-expressing cells (eTACs) that are resident in the secondary lymphoid organs (2).

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