II. Epidemiology

  1. Onset in childhood or adolescence
  2. Prevalence: 1 in 100,000

III. Pathophysiology

  1. Associated with AIRE genes
    1. May be Autosomal Dominant or recessive
  2. Autoantibodies form against Interferon
    1. Interferon-w
    2. Interferon-a

IV. Diagnosis

  1. Major Conditions for diagnosis
    1. Autoimmune Adrenal Insufficiency
    2. Hypoparathyroidism
    3. Chronic Mucocutaneous Candidiasis
  2. Associated Endocrine Conditions
    1. Primary Ovarian Insufficiency
    2. Autoimmune Thyroid disease
    3. Type 1 Diabetes Mellitus
  3. Associated Gastrointestinal Conditions
    1. Enamel hypoplasia
    2. Gastritis
    3. Enteritis with malabsorption
    4. Hepatitis
    5. Pancreatitis
  4. Associated Skin Disorders
    1. Vitiligo
    2. Alopecia
    3. Nail Dystrophy
  5. Associated Eye Disorders
    1. Keratitis
    2. Retinitis
  6. Other Associated Disorders
    1. Pneumonitis
    2. Nephritis

V. Complications

  1. Adrenal Crisis
  2. Hypocalcemia Crisis
  3. Oropharyngeal Cancer
  4. Esophageal Cancer

VI. References

  1. Bello (2023) Polyglandular Autoimmune Syndrome Type I, StatPearls, Treasure Island, FL
    1. https://www.ncbi.nlm.nih.gov/books/NBK537211/
  2. Meloni (2012) J Clin Endocrinol Metab 97(4):1114-24 +PMID: 22344197 [PubMed]

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Related Studies

Ontology: Polyglandular Type I Autoimmune Syndrome (C0085859)

Concepts Disease or Syndrome (T047)
MSH D016884
SnomedCT 237828007, 11244009
English Autoimmune Syndrome Type I, Polyglandular, APECED - Autoimm polyendocrinop-candidiasis-ectodermal dystr, APECED-Aut polyend+cand+ec dys, Auto polyendocrin+cand+ect dys, Autoimm polyendocrinopathy-candidiasis-ectodermal dystrophy, Hypoadr'cort+hypoparath+monili, Hypoadrenocortic, hypoparathyroid and superfic moniliasis, Type 1 polyendoc autoimmun syn, AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I, PGA I, POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I, APS I, AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS, Polyglandular Type I Autoimmune Syndrome, APS1, Polygland autoimm syndr-type 1, Autoimmune Polyglandular Syndrome, Type 1, Polyglandular Autoimmune Syndrome, Type 1, blizzard syndrome, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Polyglandular Autoimmune Syndrome, Type I, APECED, Autoimmune Polyglandular Syndrome, Type I, Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune, Deficiency, AIRE, APS Type 1, AIRE Deficiencies, Autoimmune Polyendocrinopathy Syndrome Type 1, AIRE Deficiency, Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy, Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune, Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune, Polyglandular autoimmune syndrome - type 1 (disorder), AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, APEDED, APS type 1, Blizzard syndrome, Candidiasis-endocrinopathy syndrome, HAM syndrome, Juvenile familial endocrinopathy, Polyglandular autoimmune syndrome, type 1, Polyglandular deficiency associated with mucocutaneous candidiasis, Whitaker syndrome, APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis, Type 1 polyendocrine autoimmunity syndrome, Polyglandular autoimmune syndrome - type 1, Hypoparathyroidism, Addison's disease AND moniliasis, Polyglandular autoimmune syndrome, type 1 (disorder), Autoimmune polyendocrinopathy, candidosis AND ectodermal dystrophy, Autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy, Hypoparathyroidism, Addison's disease and moniliasis, Polyglandular autoimmune syndrome type I, Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune Polyglandular Syndrome Type I
Italian Sindrome autoimmune plurighiandolare tipo I
Portuguese Síndrome auto-imune poliglandular tipo I, Poliendocrinopatia Autoimune-Candidíase-Distrofia Ectodérmica, Síndrome Poliglandular Autoimune Tipo I
Japanese 多腺性自己免疫性症候群1型, タセンセイジコメンエキセイショウコウグン1ガタ
Czech autoimunitní syndrom polyglandulární typ I, Polyglandulární autoimunitní syndrom typu I
French Polyendocrinopathie auto-immune de type 1, Polyendocrinopathie auto-immune de type I, Polyendocrinopathie autoimmune de type 1, Polyendocrinopathie autoimmune de type I
German Polyglanduläres Typ-I-Autoimmunsyndrom, polyglandulaeres Autoimmunsyndrom Typ I, Autoimmunsyndrom Typ I, polyglanduläres
Hungarian Polyglandularis autoimmun syndroma I. típus
Spanish APS, tipo 1, déficit poliglandular asociado con candidiasis mucocutánea, hipoparatiroidismo, enfermedad de Addison Y moniliasis, hipoparatiroidismo, enfermedad de Addison y moniliasis, síndrome HAM, síndrome autoinmune poliglandular, tipo 1 (trastorno), síndrome autoinmune poliglandular, tipo 1, síndrome de Whitaker, síndrome de candidiasis - endocrinopatía, síndrome poliglandular autoinmunitario, tipo 1 (trastorno), síndrome poliglandular autoinmunitario, tipo 1, Síndrome autoinmume poliglandular de tipo I, Distrofia Ectodérmica-Candidiasis-Poliendocrinopatía Autoinmune, Síndrome Poliglandular Autoinmune Tipo I
Dutch polyglandulair auto-immuun syndroom type I, Auto-immuun endocrien syndroom type I, poly-glandulair, Poly-glandulair endocrien syndroom type I, auto-immuun