Autoimmune polyendocrine syndrome type 1: case report and review of literature

Weiler, Fernanda Guimarães; Silva, Magnus R. Dias da; Lazaretti-Castro, Marise

doi:10.1590/s0004-27302012000100009

Cited by 42 publications

(70 citation statements)

References 76 publications

(170 reference statements)

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“…Serological tests for Epstein-Barr virus, cytomegalovirus, hepatitis A-, B-, C-, and E virus infections were negative. Recurrent maculopapular, morbilliform and urticarial erythema with fever have also been reported in other cases of APECED, with skin biopsy in some cases revealing lymphoplasmacytic vasculitis [38]. Liver protection therapy (silimarin, vitamin B complex) and local antifungal treatment with borax-glycerin and nystatin were initiated.…”

Section: Patientmentioning

confidence: 92%

“…In most cases, signs and symptoms of the disease appear in infancy or childhood and affected patients typically develop three to seven different disease manifestations. In addition to the major criteria, minor disease components are also common [3,4,25,38]. These signs and the major components of disease often develop in a particular chronological order.…”

Section: Introductionmentioning

confidence: 99%

“…Adrenal insufficiency is preceded by the production of anti-21-hydroxylase antibodies. Other endocrine signs include ovarian failure, diabetes mellitus type 1, testicular failure, autoimmune thyroiditis and hypophysitis [19,20,25,38]. APECED may be associated with gastrointestinal signs, such as autoimmune gastritis, hepatitis and malabsorption syndromes [10].…”

Section: Introductionmentioning

confidence: 99%

“…APECED may be associated with gastrointestinal signs, such as autoimmune gastritis, hepatitis and malabsorption syndromes [10]. Ectodermal dystrophy may include dental enamel hypoplasia, keratopathy, vitiligo, alopecia, nail pitting and tympanic membrane calcifications [4,38]. Vitiligo may develop in the first month of life and its extent is highly variable, from isolated spots to coverage of almost the entire body surface [4].…”

Section: Introductionmentioning

confidence: 99%

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Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

et al. 2014

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The relative roles of various autoantibodies against IL-17-type cytokines in susceptibility to chronic mucocutaneous candidiasis (CMC) in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) remain poorly defined. The purpose of this longitudinal study was to analyze the relationship between the occurrence of mucocutaneous candidiasis and levels of anti-IL-17A, anti-IL-17F and anti-IL-22 autoantibodies. We studied six APECED patients from four families with various disease manifestations. Clinical data were collected during regular follow-up. Anti-endocrine organ antibody levels and clinical chemistry and immunology parameters were determined in routine laboratory assays on freshly isolated serum. Levels of autoantibodies against IL-17A, IL-17F, IL-22, IFN-α, IFN-ω and TNF-α, and cytokine release by Candidaexposed blood cells were determined by ELISA. Mutations were analyzed by sequencing genomic DNA. Four patients carried the germline c.769C>T homozygous nonsense mutation, which results in R257X truncation of the AIRE protein, and two patients from the same family were compound heterozygous for the c.769C>T/c.1344delC mutation. We found persistently high levels of antibodies against IL-17A in the serum samples of one patient presenting CMC since infancy and low or undetectable anti-IL-17A antibody levels in the sera of five patients with no candidiasis or without severe candidiasis. By contrast, levels of autoantibodies against IL-17F and IL-22 were higher in all patients than in healthy controls. Release of IL-17-type cytokines by Candidaexposed blood mononuclear cells was low or negligible in all patients tested. We suggest that anti-IL-17A antibodies may play an important role in the predisposition to candidiasis of APECED patients. However, the lack of severe CMC in APECED patients with high levels of IL-17F and anti-IL-22 autoantibodies clearly calls into question the role of these antibodies as the principal cause of cutaneous and mucosal candidiasis in at least some APECED patients. These data also suggest that the impaired release of IL-17-type cytokines by blood cells may be an element of the immunopathology of CMC in APECED patients.

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Section: Patientmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

et al. 2014

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“…PAS Type I, also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), ME-DAC (multiple endocrine deficiency autoimmune candidiasis syndrome), juvenile autoimmune polyendocrinopathy, or Whitaker's syndrome (OMIM 240300), is classically defined by the association of at least two of three major component diseases: chronic mucocutaneous candidiasis, primary hypoparathyroidism, and autoimmune adrenal insufficiency [5]. In most cases PAS Type I appears in infancy and childhood.…”

Section: Discussionmentioning

confidence: 99%

A Non-classical Presentation of Schmidt’s Syndrome: A Rare and a Lethal Disease

Bhullar

2013

J Endocrinol Metab

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Schmidt's syndrome is a rare autoimmune endocrine disease in which the patient suffers from primary addison's disease and primary hypothyroidism. Currently, Schmidt's Syndrome has been classified as a part of the inheritable Polyglandular Autoimmune Syndromes (PAS). It is more common in females and has a complex inheritance pattern when familial (50%). Though it is treatable if diagnosed early, but many patients die within one year of being diagnosed. A 25 year-old male with a known history of adrenal insufficiency, hypothyroidism, and hypopituitarism presented with weakness, confusion and fainting spells since 3 weeks. A physical examination revealed vitiligo on the digits. Laboratory investigations showed elevated TSH, decreased testosterone and decreased ACTH, all consistent with a diagnosis of Schmidt's syndrome. He was started on appropriate hormone replacement therapy Adrenal insufficiency was treated earlier and followed by treatment of thyroid insufficiency. The patient improved and is on a regular follow up. We report a unique case as our patient is a young male, who rarely present with Schmidt's syndrome. He did not have Type I diabetes, but developed Growth Hormone (GH) deficiency. Moreover PAS Type II is often inherited in an autosomal dominant pattern, while in our patient there was no family history of PAS. There are very few case reports in literature of atypical presentations of Schmidt's syndrome which can add to the literature to help in earlier diagnosis and better outcomes of such patients. To conclude, a high index of suspicion is needed for an early diagnosis and appropriate hormonal replacement therapy of Schmidt's syndrome, which is a rare disease, but is a life threatening condition if not diagnosed and treated early.

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Autoimmune polyendocrine syndrome with hypoadrenocorticism and diabetes mellitus in a dog: A rare case

Hwang

Lee

et al. 2021

Veterinary Medicine & Sci

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Background: Autoimmune polyendocrine syndrome, also called polyglandular autoimmune syndrome, is a rare immune-mediated disorder that involves various endocrine glands.Purpose: To report autoimmune polyendocrine syndrome in a dog.Methods: A 9-year-old spayed female miniature poodle diagnosed with insulindependent diabetes mellitus emergently visited our clinic for anorexia, severe depression, and vomiting. Hyponatremia, hypochloridemia, and recurrent hypoglycaemia were found. Hypoadrenocorticism was diagnosed based on consistent clinical signs and repeated adrenocorticotropic hormone stimulation tests.Results: After injecting deoxycorticosterone pivalate and increasing the oral prednisolone dose, the patient's systemic condition improved. Conclusions:To the best of our knowledge, this is the first case report of hypoadrenocorticism concurrent with diabetes mellitus in a dog. Furthermore, we would like to present the probability of an immune-mediated disorder with multiple organs involved, like type IV autoimmune polyendocrine syndrome in humans.

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Autoimmune polyendocrine syndrome type 1: case report and review of literature

Cited by 42 publications

References 76 publications

Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

A Non-classical Presentation of Schmidt’s Syndrome: A Rare and a Lethal Disease

Autoimmune polyendocrine syndrome with hypoadrenocorticism and diabetes mellitus in a dog: A rare case

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