Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach

Bjørklund, Geir; Pivin, Maksim; Tony, Hangan; Yurkovskaya, Oksana; Pivina, Lyudmila

doi:10.1016/j.autrev.2022.103135

Cited by 20 publications

(9 citation statements)

References 51 publications

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“…The CMC is one of the most common presenting symptoms in children with autoimmune polyglandular syndrome type 1 (APS-1, also named APECED; OMIM 240300): 25–50% of affected patients present with the CMC in the first year of life, with rates reaching 80–90% in the adult population [ 36 , 37 , 38 ]. The APECED is a rare (1:100,000) monogenic IEI due to mutations in AIRE , that are classically autosomal-recessive (AR), although dominant-negative variants have also been reported [ 39 ].…”

Section: Methodsmentioning

confidence: 99%

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

Olbrich

Vinh

2023

JoF

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Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and/or malignancies. An emerging manifestation is susceptibility to fungal disease, caused by yeasts or moulds, in a superficial or invasive fashion. In this review, we describe recent advances in the field of inborn errors of immunity associated with increased susceptibility to fungal disease.

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Section: Methodsmentioning

confidence: 99%

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

Olbrich

Vinh

2023

JoF

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“…Autoimmune polyendocrinopathy candidiasis ectodermal dysplasia also known as autoimmune polyglandular syndrome type I (APS1) is a rare recessive inherited disease caused by mutations in the gene AIRE , an autoimmune regulator. It is associated with endocrine and non-endocrine autoimmune diseases [ 1 , 2 ] and it's characterized by the triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease [ 1 ]. It occurs at an approximate frequency of one per 90,000-200,000 people and it is more prevalent in genetically isolated groups of the population [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…It is associated with endocrine and non-endocrine autoimmune diseases [ 1 , 2 ] and it's characterized by the triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease [ 1 ]. It occurs at an approximate frequency of one per 90,000-200,000 people and it is more prevalent in genetically isolated groups of the population [ 2 ]. The diagnosis is often challenging and delayed given its various clinical and subtle manifestations.…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis is often challenging and delayed given its various clinical and subtle manifestations. However, it can present clinically in children as young as three to five years old [ 3 ] and the peak of manifestations is usually at the age of 12 [ 2 ]. A slight female predominance has been reported, but both genders can be affected [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…However, it can present clinically in children as young as three to five years old [ 3 ] and the peak of manifestations is usually at the age of 12 [ 2 ]. A slight female predominance has been reported, but both genders can be affected [ 1 , 2 ]. More than a hundred mutations of this gene have been described and associated with disease [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

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A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I

Tautiva-Rojas¹,

Bogarin-Solano²,

Santamaría-Quesada³

et al. 2023

Cureus

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Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis. We discuss the case of a 5year-old female who presented initially with a new-onset seizure due to severe hypocalcemia and was diagnosed with primary hypoparathyroidism. Because she also had a history of chronic mucocutaneous candidiasis, chronic diarrhea, and the presence of autoantibodies tested positive, the diagnosis of APS1 was suspected. Genetic testing detected a novel pathogenic homozygous AIRE mutation, which confirmed the diagnosis. She began multidisciplinary treatment with antifungals, calcium supplements, and parathyroid hormone analogs.

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