Affected males commonly develop type 1 diabetes mellitus (even as early as the first month of life), intractable diarrhea, malabsorption and failure to thrive secondary to autoimmune enteropathy, and atopic dermatitis. Atopic dermatitis may be accompanied by food allergies and increased immunoglobulin E (IgE) levels with associated eosinophilia.
About one-half of patients experience anemia, thrombocytopenia, or neutropenia. Other autoimmune conditions including thyroiditis and nephropathy may also present. Arthritis, alopecia areata, alopecia universalis, chronic urticaria, and bullous pemphigoid are rare.
If not treated, children with IPEX syndrome may succumb early in life due to malabsorption and failure to thrive or due to sepsis.
E31.0 – Autoimmune polyglandular failure
41864002 – Autoimmune polyendocrinopathy
Differential Diagnosis & Pitfalls
- IPEX-like syndromes: FOXP3 mutations are not found. Often, these patients have CD25+ deficiency or STAT5b mutations. Additionally, organomegaly and respiratory manifestations such as bronchiectasis may be present.
- Type I polyglandular autoimmune syndrome / autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED); see also chronic mucocutaneous candidiasis
- DOCK8 deficiency
- Wiskott-Aldrich syndrome
- Omenn syndrome
- X-linked autoimmune enteropathy – Presents with chronic diarrhea and malabsorption. Diagnostic criteria include the detection of villous atrophy and a decrease in goblet cells on biopsy of the small intestine.
- Eosinophilic gastroenteritis
- X-linked thrombocytopenia