X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation

An X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and DERMATITIS. Other features may include HYPOTHYROIDISM; AUTOIMMUNE HEMOLYTIC ANEMIA; THROMBOCYTOPENIA; LYMPHADENOPATHY; HEPATITIS, and NEPHRITIS. The disorder may be fatal before age 2 years if not aggressively treated. Mutations in the FOXP3 gene have been identified. OMIM: 304790

Also Known As:

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome; Autoimmunity-Immunodeficiency Syndrome, X-Linked; Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea; Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked; Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy; IDDM-Secretory Diarrhea Syndrome; Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked; Ipex Syndrome; Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Glucose Metabolism Disorders: 394
    - Diabetes Mellitus: 57856
      - Type 1 Diabetes Mellitus: 37660
        X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103
Endocrine System Diseases: 996
- Diabetes Mellitus: 57856
  - Type 1 Diabetes Mellitus: 37660
    - X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103
Immune System Diseases: 4430
- Autoimmune Diseases: 35458
  - Type 1 Diabetes Mellitus: 37660
    - X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103
- X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Digestive Signs and Symptoms
    - Diarrhea: 31600
      - X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - X-Linked Genetic Diseases: 42
    - X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation: 103

M Garcia-Lloret Selected Research

M Garcia-Lloret Research Topics

Disease

Drug/Important Bio-Agent (IBA)