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immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome


Definition: [MIM304790] a syndrome of variable autoimmune features including eczema, enteropathies, hemolytic anemia, and endocrinopathies (diabetes mellitus and thyroid pathology), abnormal responses to viral infections; associated death in infancy or early childhood is common.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.