71 citations
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May 2024 in “New England Journal of Medicine” This study investigated the impact of the JAK inhibitor ruxolitinib on APS-1 patients, reporting that treatment decreased excessive T-cell-derived interferon-γ, normalized inflammatory markers, and led to remission of several autoimmune symptoms without serious adverse effects.
31 citations
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May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
2 citations
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January 2014 in “Indian Journal of Critical Care Medicine” This report describes a 38-year-old female diagnosed with autoimmune polyendocrine syndrome Type II after presenting with shock.
2 citations
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December 2023 in “Journal of clinical immunology” This study describes the positive effects of the JAK inhibitor ruxolitinib in treating autoimmune manifestations in three patients with autoimmune polyendocrine syndrome type-1 over a period of at least 30 months, with excellent tolerance and no adverse events observed.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
January 2019 in “Przegląd Dermatologiczny” This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.
This case study describes a 29-year-old woman diagnosed with both systemic lupus erythematosus and Graves' disease, illustrating a specific combination of autoimmune conditions within Autoimmune Polyendocrine Syndromes.
1 citations
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January 2022 This case report describes a 29-year-old woman diagnosed with both systemic lupus erythematosus and Graves' disease, illustrating the occurrence of autoimmune polyendocrine syndromes with specific combinations of autoimmune disorders.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
9 citations
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January 2007 in “Gynecological Endocrinology” This case report presents the first known instance of combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2 in a patient, exploring potential mechanisms for their interrelation.
5 citations
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February 2015 in “Endocrinology Diabetes and Metabolism Case Reports” This case report describes a patient with autoimmune polyglandular syndrome type 3 who experienced total hair regrowth following the successful control of diabetes with insulin therapy.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
January 2019 in “Przegląd Dermatologiczny” This report presents a case of a 57-year-old woman with APS-4, generalized alopecia, and rheumatoid arthritis, emphasizing the need to screen for other autoimmune disorders in patients with a single organ-specific autoimmune disease.
June 2025 in “International Medical Case Reports Journal” This case study reported on a 30-year-old male with autoimmune polyglandular syndrome type 2, highlighting rare co-occurrence with alopecia universalis and emphasizing the importance of recognizing non-endocrine symptoms for early diagnosis and management of autoimmune endocrinopathies.
12 citations
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February 2023 in “Journal of Personalized Medicine” This review discusses the complex interplay of genetic and environmental factors in Type 1 Diabetes Mellitus and its frequent association with other autoimmune conditions, focusing on personalized medicine to potentially improve patient care.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
December 2023 in “Paediatrics & Family Medicine/Pediatria & Medycyna Rodzinna” This article summarizes research on the co-occurrence of autoimmune diseases in patients with type 1 diabetes, noting that such conditions, present in up to 29% of these patients, can adversely impact their quality of life and diabetes management.
30 citations
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September 2017 in “Clinics in Dermatology” This review explores the relationship between androgenetic alopecia and metabolic syndrome, suggesting an association that supports considering cardiovascular risk assessments in patients with this type of hair loss.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
January 2023 in “International Journal of Zoology and Animal Biology” This case report describes an 11-year-old Lhasa Apso diagnosed with hypothyroidism and diabetes mellitus, illustrating the link between these common endocrine disorders in dogs.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
9 citations
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July 2009 in “Journal Of Endocrinology, Metabolism And Diabetes Of South Africa” The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.
12 citations
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October 1995 in “The Journal of Clinical Endocrinology & Metabolism” Skin changes can indicate hormonal imbalances and help diagnose endocrine disorders.
46 citations
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July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
63 citations
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December 1988 in “International Journal of Dermatology” Vitiligo causes white skin patches and is linked to autoimmune issues.
53 citations
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June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.