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

26 citations , September 2009 in “Clinical genetics”

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

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

2 citations , 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.

research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

31 citations , 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.

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”

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.

research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh

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.

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community Which compounds in Saw Palmetto are actually beneficial?

4 upvotes 1 year ago

Saw palmetto's fatty acids, particularly lauric and linoleic acids, inhibit enzymes linked to hair loss, while sterols like beta-sitosterol are less effective due to poor absorption. The conversation questions which specific compounds in saw palmetto contribute to its anti-androgenic effects.

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