A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess

Aytekin, Elif Soyak; Serin, Oguzhan; Çağdaş, Deniz; Tan, Çağman; Aksu, Tekin; Unsal, Yagmur; Yeni, Selma; Orhan, Dıclehan; Özön, Z. Alev; Tezcan, İlhan

doi:10.1097/inf.0000000000002887

Cited by 4 publications

(4 citation statements)

References 15 publications

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“…When it is resistant to corticosteroids, MMF, mammalian target of rapamycin (mTOR) inhibitors, calcineurin inhibitors, azathioprine, and infliximab can be used as second-line agents and appear to be effective. [137][138][139][140] Vitamin B12 and iron replacement are the mainstays of treatment for autoimmune atrophic gastritis.…”

Section: Treatmentmentioning

confidence: 99%

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

Aytekin

Çağdaş

2023

Scand J Immunol

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In the last 20 years, discoveries about the autoimmune regulator (AIRE) protein and its critical role in immune tolerance have provided fundamental insights into understanding the molecular basis of autoimmunity. This review provides a comprehensive overview of the effect of AIRE on immunological tolerance and the characteristics of autoimmune diseases in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), which is caused by biallelic AIRE mutations. A better understanding of the immunological mechanisms of AIRE deficiency may enlighten immune tolerance mechanisms and new diagnostic and treatment strategies for autoimmune diseases. Considering that not all clinical features of APECED are present in a given follow-up period, the diagnosis is not easy in a patient at the first visit. Longer follow-up and a multidisciplinary approach are essential for diagnosis. It is challenging to prevent endocrine and other organ damage compared with other diseases associated with multiple autoimmunities, such as FOXP3, LRBA, and CTLA4 deficiencies. Unfortunately, no curative therapy like haematopoietic stem cell transplantation or specific immunomodulation is present that is successful in the treatment. APECED, also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare, life-threatening disorder How to cite this article: Aytekin ES, Cagdas D. APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.

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Section: Treatmentmentioning

confidence: 99%

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

Aytekin

Çağdaş

2023

Scand J Immunol

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“…Diagnosis generally relies on three main criteria: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and adrenal insufficiency. Nonetheless, genetic testing is necessary for precise identification in certain instances, particularly those presenting with atypical or subtle symptoms [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…In addition to the typical manifestations, individuals with APECED may also manifest various autoimmune conditions, including but not limited to autoimmune hepatitis, enteropathy, gastritis, pernicious anemia, gonadal failure, and diabetes. Furthermore, the syndrome is linked to ectodermal manifestations such as alopecia and vitiligo, along with inflammatory complications such as intestinal lung disease and nephritis [2][3][4][5].…”

Section: Introductionmentioning

confidence: 99%

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

Sandru,

Petca,

Dumitrascu

et al. 2024

Biomedicines

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive disorder linked to mutations in the autoimmune regulator (AIRE) gene. This review provides a detailed analysis of cutaneous manifestations in APECED, focusing on chronic mucocutaneous candidiasis (CMC), alopecia areata (AA), and vitiligo. The classic triad of hypoparathyroidism, adrenal insufficiency, and CMC serves as a diagnostic cornerstone. However, the varied clinical spectrum of APECED, particularly its cutaneous presentations, poses a diagnostic challenge. CMC, often an early sign, varies in prevalence across populations, including Finnish (100%), Irish (100%), Saudi Arabian (80%), Italian (60–74.7%), North American (51–86%), and Croatian (57.1%) populations. Similarly, AA prevalence varies in different populations. Vitiligo also exhibits variable prevalence across regions. The review synthesizes the current knowledge arising from a narrative analysis of 14 significant human studies published in English up to October 2023. Moreover, this paper underscores the importance of early detection and monitoring, emphasizing cutaneous manifestations as key diagnostic indicators. Ongoing research and clinical vigilance are crucial for unraveling the complexities of this rare autoimmune syndrome and enhancing patient care.

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“…"In addition to the typical manifestations, individuals with APECED may also manifest various autoimmune conditions, including but not limited to autoimmune hepatitis, enteropathy, gastritis, pernicious anemia, gonadal failure, and diabetes. Furthermore, the syndrome is linked to ectodermal manifestations such as alopecia and vitiligo, along with inflammatory complications such as intestinal lung disease and nephritis" [6][7][8]. "Genetic testing is necessary for precise identification in certain instances, particularly those presenting with atypical or subtle symptoms" [9].…”

Section: Introductionmentioning

confidence: 99%

Cardiac Tamponade Revealing an “APECED Syndrome”, an Unsual Manifestation in a 7-Year-Old Moroccan Girl: A Case Report

Njie,

Timimi,

Mulendele

et al. 2024

J. Compl. Altern. Med. Res.

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Background: APECED or multiple endocrine deficiency autoimmune candidiasis syndrome is a rare disease characterized by the manifestation of autoimmune endocrinopathies in a peculiar sequence during infancy. The clinical diagnosis of APECED requires the presence of at least two of these three major components: Chronic mucocutaneus candidiasis, hypoparathyroidism and or primary adrenal insufficiency. Genetic testing is necessary for precise identification in certain instances, particularly those presenting with atypical or subtle symptoms. Clinical Presentation: we report a rare clinical manifestation of APECED syndrome in a 7-year-old girl from a Moroccan origin, unique child born in a 2nd consanguineous marriage, was admitted initially for cardiac tamponade revealing the underlying disease. Patient’s assessment after pericardiocentesis confirmed hypoparathyroidism disease and undiagnosed chronic onychomycosis of the nails of her right hand. A genetic test was carried out after multidisciplinary discussion between cardiologists and endocrinologists which tested positive for a mutation in the AIRE (21q22.3) gene responsible for APECED syndrome. Treatment was based on symptomatic treatment of acute pericarditis according to the guidelines of European Society of Cardiology on the management of pericarditis with a good clinical outcome associated with oral calcium supplementation and levothyroxine. Conclusion: APECED syndrome is an exceptional disease both in terms of its frequency and its pathophysiological mechanisms and requires a multidisciplinary approach. The management of APECED syndrome involves the management of the various diseases. Patients must be monitored regularly to detect the appearance of other pathological elements of the syndrome.

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A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess

Cited by 4 publications

References 15 publications

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

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

Cardiac Tamponade Revealing an “APECED Syndrome”, an Unsual Manifestation in a 7-Year-Old Moroccan Girl: A Case Report

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