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Did you mean Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy?

GlossaryAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

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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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

6 citations , January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib

January 2026 in “Clinical and Experimental Dermatology”

Ruxolitinib helped a patient with alopecia areata regrow hair.

research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report

January 2026 in “Genes”

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review

January 2024 in “Biomedicines”

The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease

research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease

26 citations , June 2018 in “The journal of immunology/The Journal of immunology”

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17

24 citations , February 2011 in “The American journal of pathology”

AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.

research Clinical case of alopecia totalis in pediatric practice

May 2023 in “Sučasna pedìatrìâ. Ukraïna”

An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.

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 Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

26 citations , September 2009 in “Clinical genetics”

Arab APS1 patients have unique and recurrent AIRE gene mutations.

research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report

April 2024 in “Research Square (Research Square)”

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

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 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.

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: 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 Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity

55 citations , November 2010 in “Journal of Allergy and Clinical Immunology”

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant

11 citations , July 2014 in “Gene”

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1

2 citations , January 2021 in “Case reports in endocrinology”

The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.

research Alopecia areata: A multifactorial autoimmune condition

148 citations , December 2018 in “Journal of autoimmunity”

Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.

research Autoimmune polyglandular syndrome type 4 – case report

January 2019 in “Przegląd Dermatologiczny”

Patients with one autoimmune disease should be checked for other autoimmune disorders.

research Alopecia Areata: A tissue specific autoimmune disease of the hair follicle

185 citations , August 2005 in “Autoimmunity Reviews”

Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.

research Skin Manifestations Associated with Autoimmune Liver Diseases: a Systematic Review

26 citations , October 2017 in “Clinical Reviews in Allergy & Immunology”

Autoimmune liver diseases are likely linked to certain skin conditions like vitiligo and psoriasis.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research Autoimmune Liver Disease In Children

January 2021 in “Pediatric Oncall”

Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.

research Alopecia areata: Animal models illuminate autoimmune pathogenesis and novel immunotherapeutic strategies

82 citations , March 2016 in “Autoimmunity reviews”

Animal models have helped understand hair loss from alopecia areata and find new treatments.

Alopecia in Preexisting Autoimmune Thyroid Disease in Family Medicine Practice: Can Hyperprolactinemia Induce Hair Loss? A Case Report

research Alopecia in preexisting autoimmune thyroid disease in family medicine practice: can hyperprolactinemia induce hair loss? A case report

1 citations , January 2021 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)”

High prolactin levels might be linked to hair loss in autoimmune thyroid disease, but more research is needed.

research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies

9 citations , March 2015 in “International reviews of immunology”

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

Type 3 Autoimmune Polyendocrine Syndrome Diagnosed in an 87-Year-Old Patient with Concomitant Chronic Autoimmune Urticaria

research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria

January 2019 in “Przegląd Dermatologiczny”

An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.

research Alopecia Areata: a Comprehensive Review of Pathogenesis and Management

99 citations , July 2017 in “Clinical Reviews in Allergy & Immunology”

New treatments for Alopecia Areata show promise but need to be more effective and affordable.

Alopecia Areata: Comprehensive Overview and Management

research Alopecia Areata

1 citations , May 2017 in “InTech eBooks”

The document concludes that alopecia areata is an unpredictable autoimmune hair loss condition with no cure, but various treatments exist that require personalized approaches.