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.