immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Term ID

DOID:0090110

Synonyms

• Autoimmune enteropathy type 1
• autoimmunity-immunodeficiency syndrome, X-linked
• diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
• diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
• DMSD
• IDDM-secretory diarrhea syndrome
• immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
• immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
• IPEX
• X-linked autoimmunity-allergic dysregulation syndrome
• XLAAD
• XPID

Definition

An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (2)

References

• GARD:1850
• ICD10CM:E31.0
• MESH:C580192
• OMIM:304790
• ORDO:37042

Ontology

Human Disease   ( DOID:0090110 )