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Table 1 Characteristics of IPEX Syndrome #§.

From: Regulatory T cells and their role in rheumatic diseases: a potential target for novel therapeutic development

Organ system

Manifestations*

Endocrine

Insulin dependent diabetes mellitus

Thyroid dysfunction

Parathyroid hormone resistance

Gastrointestinal

Autoimmune enteropathy

Diarrhea

Villous atrophy, failure to thrive

Skin

Eczema

Ichthyosiform dermatitis

Exfoliative dermatitis

Infectious disease

Exaggerated response

to viral infections

Frequent infections

Immune dysregulation

Increased IgE, intermittent eosinophilia

Skewing of T lymphocytes to Th2 phenotype

Hemolytic anemia

Immune thrombocytopenia

Coagulopathy

  1. # Alternative names: XLAAD (X-linked autoimmunity allergic dysregulation syndrome); insulin dependent diabetes mellitus-secretory diarrhea syndrome; XPID (Polyendocrinopathy, immune dysfunction, diarrhea, X-linked)
  2. § Treatment: immunosuppression (Cyclosporine A), allogeneic bone marrow transplantation
  3. * Manifestations of the disease are highly variable