Myelin oligodendrocyte glycoprotein antibody-associated disease in a patient with AIRE gene dominant-negative mutation.

Abstract

Myelin oligodendrocyte glycoprotein antibody-associated disease is a demyelinating disorder affecting the central nervous system. Autoimmune regulator mutations disrupt central tolerance and cause immunodeficiency and autoimmune manifestations. We report the case of a 49-year-old Asian male with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease and a heterozygous dominant-negative autoimmune regulator mutation (c.901G > A, p.Val301Met), alongside vitiligo, cryptococcal disease and nasopharyngeal carcinoma. This case raises a potential link between negative selection failure and myelin oligodendrocyte glycoprotein antibody-associated disease and suggests that autoreactive T cells may be primary pathogenetic drivers, implying that restoring immune tolerance could inform future therapeutic approaches.