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SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
IPEX syndrome
Other Resources UpToDate PubMed

IPEX syndrome

Contributors: Pranvera Sulejmani MS, Casey P. Schukow DO, Susan Burgin MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genodermatosis with onset in infancy. It results from mutations of Forkhead box P3 (FOXP3), on the X chromosome, required for development of CD4+CD25+ regulatory T cells (Tregs). Tregs are a subset of T cells with a strong immunosuppressive effect. They function in maintaining immune balance and are highly involved in the regulation of autoimmune and allergic events. When Tregs fail to function properly, a lack of immune homeostasis ensues, leading to excessive immune responses and inflammatory manifestations characteristic of the syndrome.

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.

Codes

ICD10CM:
E31.0 – Autoimmune polyglandular failure

SNOMEDCT:
41864002 – Autoimmune polyendocrinopathy

Look For

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Diagnostic Pearls

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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 Bronchiectasismay 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

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/09/2023
Last Updated:05/23/2023
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IPEX syndrome
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A medical illustration showing key findings of IPEX syndrome
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