[HTML][HTML] Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect

MH Cheng, U Fan, N Grewal, M Barnes… - … England Journal of …, 2010 - Mass Medical Soc
MH Cheng, U Fan, N Grewal, M Barnes, A Mehta, S Taylor, ES Husebye, EJ Murphy
New England Journal of Medicine, 2010Mass Medical Soc
To the Editor: Paraneoplastic autoimmunity frequently accompanies thymoma. Because
thymic tumors can support thymocyte development, aberrant T-cell generation has been
suggested as a cause. 1 The autoimmune polyglandular syndrome type 1 (APS1), a
monogenic syndrome of pleomorphic autoimmunity characterized by the clinical triad of
hypoparathyroidism, hypoadrenalism, and candidiasis, arises from defects in the AIRE
(autoimmune regulator) gene, 2 which mediates the expression of tissue-specific self …
To the Editor: Paraneoplastic autoimmunity frequently accompanies thymoma. Because thymic tumors can support thymocyte development, aberrant T-cell generation has been suggested as a cause.1
The autoimmune polyglandular syndrome type 1 (APS1), a monogenic syndrome of pleomorphic autoimmunity characterized by the clinical triad of hypoparathyroidism, hypoadrenalism, and candidiasis, arises from defects in the AIRE (autoimmune regulator) gene,2 which mediates the expression of tissue-specific self-antigens by medullary thymic epithelial cells. In the absence of the AIRE protein, many tissue-specific self-antigens are not expressed in the thymus, and multiorgan autoimmunity develops because of faulty negative selection of autoreactive T cells.3,4 (Negative selection . . .
The New England Journal Of Medicine