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GlossaryAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APS-1)

rare genetic disorder causing multiple endocrine issues, chronic fungal infections, and skin abnormalities

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), also known as Autoimmune Polyendocrine Syndrome Type 1 (APS-1), is a rare genetic disorder characterized by the dysfunction of multiple endocrine glands, chronic mucocutaneous candidiasis (persistent fungal infections of the skin, nails, and mucous membranes), and ectodermal dystrophy (abnormalities in the skin, teeth, and nails). It is caused by mutations in the AIRE gene, which plays a crucial role in immune system regulation, leading to the body's immune system attacking its own tissues.

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research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1

2 citations , December 2023 in “Journal of clinical immunology”

Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.

research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients

31 citations , May 2021 in “Journal of endocrinological investigation”

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1

2 citations , December 2020 in “Endocrinology, diabetes & metabolism case reports”

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

research Autoimmune Polyendocrine Syndrome Type 1: A Case Report from Bangladesh

January 2017 in “IMC Journal of Medical Science”

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

62 citations , January 2010 in “Hormone research in paediatrics”

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

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community Which compounds in Saw Palmetto are actually beneficial?

in Research/Science 2 upvotes 1 year ago

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