Table 1.

Classification and Characteristics of Autoimmune Polyendocrine Syndromes

	APS-1	APS-2	IPEX
Main manifestations	Addison’s disease Hypoparathyroidism Chronic mucocutaneous candidiasis	Addison’s disease Autoimmune thyroid disease Type 1 diabetes	Autoimmune enteropathy Neonatal type 1 diabetes mellitus Eczema
Other associated manifestations	Oophoritis, autoimmune thyroid disease, type 1 diabetes Gastritis, enteritis with malabsorption, hepatitis, pancreatitis, pneumonitis, nephritis Vitiligo, alopecia, nail dystrophy, enamel hypoplasia, keratitis, retinitis	Autoimmune gastritis, alopecia, vitiligo, celiac disease, oophoritis	Autoimmune thyroid disease, hemolytic anemia, thrombocytopenia
Typical age of onset	Childhood, adolescent	Adolescent to adult	Infancy
Frequency	1:100 000	1:100	1:1 000 000
Treatment	Replacement of hormones, anti-fungal therapy, immunosuppressive therapy for hepatitis, malabsorption, nephritis, pneumonitis, and keratitis	Replacement of hormones	Replacement of hormones, bone marrow transplantation
Complications, Including death	Adrenal and hypocalcemic crises, cancer in mouth and esophagus	Adrenal crisis, diabetic complications	Infections
Genes and mode of inheritance	AIRE, autosomal recessive and dominant	Polygenic, MHC and others	FOXP3, X-linked
Immune phenotype	Autoantibodies against interferon omega and alpha (>95%), and organ-specific intracellular proteins	Autoantibodies against 21-hydroxylase, GAD-65, IA2, TSH-receptor, and TPO	Autoantibodies against GAD-65, lymphocytosis, eosinophilia, overproduction of cytokines, hyper IgE

Abbreviations: AIRE, autoimmune regulator; FOXP3, forkhead box P3; GAD, glutamic acid decarboxylase-65; IA2, Islet cell antigen; MHC, major histocompatibility complex; TPO, thyroperoxidase; TSH, thyroid stimulation hormone.