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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked Syndrome

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked Syndrome, IPEX Syndrome

  • See Also
  1. Diabetes Related Intestinal Enteropathy
  2. Autoimmune Polyglandular Syndrome, Type I
  3. Autoimmune Polyglandular Syndrome, Type II
  • Epidemiology
  1. Onset in male infants (X-Linked)
  2. Prevalence: 1 in 1,000,000
  • Pathophysiology
  1. Associated with FOXP3 Gene (X-Linked)
  • Diagnosis
  1. Major Conditions for diagnosis
    1. Autoimmune Enteropathy
    2. Neonatal Type I Diabetes Mellitus
    3. Eczema
  2. Associated Endocrine Conditions
    1. Autoimmune Thyroid disease
    2. Hemolytic Anemia
    3. Thrombocytopenia
  • Labs
  1. GAD65 Autoantibody positive
  2. Complete Blood Count with Differential
    1. Lymphocytosis
    2. Eosinophilia
  3. Other findings
    1. Increased IgE levels
    2. Cytokine overproduction
  • Complications
  1. Infectious Disease
  • References
  1. Barzaghi (2012) Front Immunol 3:211 +PMID: 23060872 [PubMed]