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Autoimmune Polyendocrinopathies (Schmidt Syndrome)

Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.
Also Known As:
Schmidt Syndrome; Schmidt's Syndrome; Autoimmune Polyendocrinopathy; Polyendocrinopathies, Autoimmune; AIRE Deficiency; APECED; APS Type 1; Autoimmune Polyendocrine Syndrome, Type 2; Autoimmune Polyendocrine Syndrome, Type II; Autoimmune Polyendocrinopathy Syndrome Type 1; Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; Autoimmune Polyglandular Syndrome Type I; Autoimmune Polyglandular Syndrome Type II; Autoimmune Polyglandular Syndrome Type III; Autoimmune Polyglandular Syndrome, Type 1; Autoimmune Polyglandular Syndrome, Type 3; Autoimmune Polyglandular Syndrome, Type I; Autoimmune Syndrome Type III, Polyglandular; Diabetes Mellitus, Addison Disease, Myxedema; Diabetes Mellitus, Addison's Disease, Myxedema; Multiple Endocrine Deficiency Syndrome, Type 2; Polyendocrine Autoimmune Syndrome, Type II; Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune; Polyglandular Autoimmune Syndrome, Type 1; Polyglandular Autoimmune Syndrome, Type 2; Polyglandular Autoimmune Syndrome, Type 3; Polyglandular Autoimmune Syndrome, Type I; Polyglandular Deficiency Syndrome, Type 2; Polyglandular Type III Autoimmune Syndrome; AIRE Deficiencies; Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy; Deficiency, AIRE; Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune; Polyendocrinopathy, Autoimmune; Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune; Syndrome, Schmidt; Syndrome, Schmidt's; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy; Autoimmune Syndrome Type I, Polyglandular; Autoimmune Syndrome Type II, Polyglandular; Polyglandular Type I Autoimmune Syndrome; Polyglandular Type II Autoimmune Syndrome
Networked: 352 relevant articles (14 outcomes, 31 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypoparathyroidism
2. Autoimmune Polyendocrinopathies (Schmidt Syndrome)
3. Infections
4. Type 1 Diabetes Mellitus (Autoimmune Diabetes)
5. Hypothyroidism

Experts

1. Peterson, Pärt: 21 articles (01/2022 - 01/2002)
2. Perheentupa, Jaakko: 16 articles (10/2013 - 01/2002)
3. Ranki, Annamari: 15 articles (01/2022 - 11/2004)
4. Kisand, Kai: 14 articles (09/2021 - 10/2008)
5. Lionakis, Michail S: 12 articles (01/2022 - 08/2016)
6. Krohn, Kai: 12 articles (01/2019 - 11/2004)
7. Betterle, Corrado: 11 articles (06/2022 - 06/2002)
8. Kämpe, Olle: 10 articles (01/2019 - 02/2002)
9. Husebye, Eystein S: 9 articles (09/2021 - 06/2002)
10. Kluger, Nicolas: 9 articles (01/2019 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autoimmune Polyendocrinopathies:
1. AutoantibodiesIBA
2. Proteins (Proteins, Gene)FDA Link
3. AntibodiesIBA
4. DNA (Deoxyribonucleic Acid)IBA
5. AIRE ProteinIBA
6. Thyroxine (Levothyroxine)FDA LinkGeneric
7. Hydrocortisone (Cortisol)FDA LinkGeneric
8. Parathyroid Hormone (Parathormone)IBA
9. Ketoconazole (Nizoral)FDA LinkGeneric
10. CalciumIBA
12/01/2018 - "Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). "
07/01/1996 - "Together with normal parathyroid function in one patient and normal calcification of dentin in one of the two patients with hypoparathyroidism, morphology of the enamel in APECED appears to preclude calcium deficiency as the primary cause of the enamel dystrophy."
12/01/2018 - "Twice-daily or thrice-daily subcutaneous PTH 1-34 injections provided safe and effective replacement therapy for up to 10 years in children with hypoparathyroidism because of autoimmune polyglandular syndrome type 1 or calcium receptor mutation."
09/01/2014 - "To compare the response with synthetic human parathyroid hormone (PTH) 1-34 delivered by twice-daily injection vs insulin pump in children with severe congenital hypoparathyroidism due to calcium receptor mutation or autoimmune polyglandular syndrome type 1. Children and young adults aged 7-20 years with congenital hypoparathyroidism (N = 12) were randomized to receive PTH 1-34, delivered either by twice-daily subcutaneous injection or insulin pump for 13 weeks, followed by crossover to the opposite delivery method. "
01/01/2019 - "Activating antibodies directed at the extracellular calcium-sensing receptor (CaSR) have been described in autoimmune hypoparathyroidism in the setting of isolated hypoparathyroidism or autoimmune polyglandular syndrome type 1. A 34-year-old female presented with hypocalcaemia (6.0 mg/dL) and hypomagnesaemia (1.1 mg/dL) accompanied by low serum PTH (2.4 pg/mL) as well as urinary calcium and magnesium wasting. "

Therapies and Procedures

1. Therapeutics
2. Injections
3. Immunomodulation
4. Intramuscular Injections
5. Liver Transplantation