How is immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance (IPEX) syndrome differentiated from hyperimmunoglobulin E syndrome (HIES)?

Updated: Jul 10, 2019
  • Author: Harumi Jyonouchi, MD; Chief Editor: Russell W Steele, MD  more...
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Answer

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance (IPEX) syndrome is characterized by early-onset insulin-dependent diabetes mellitus (IDDM), severe enteropathy (watery or bloody diarrhea, failure to thrive [FTT], extensive food allergy), and eczema/erythroderma/alopecia with elevated IgE levels. Autoimmune phenomena also include thyroid grand, CNS, and hematological system. This is an X-linked recessive disorder associated with mutation of FOXP3, resulting in impaired development of CD4+ CD25+ regulatory T cells in the thymus, which result in impaired peripheral tolerance. IPEX patients are ill from early infancy. Primary immune deficiencies with aberrant IgE production were reviewed by Ozcan et al. [34]  CBM-opathies that are caused by mutations of genes encoding proteins composing CBM complexes can also manifest some overlapping clinical features of HIES, including severe eczema, elevated serum IgE, and vulnerability to fungal and Staphylococcal infections. [35]


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