Journal articles: 'Autoimmune Polyendocrine Syndrome type-1 (APS-1)'

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Michels, A. W., and G. S. Eisenbarth. "Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)." Journal of Internal Medicine 265, no. 5 (2009): 530–40. http://dx.doi.org/10.1111/j.1365-2796.2009.02091.x.

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Betterle, Corrado. "La Autoimmune Polyendocrine Syndrome type 1 (APS-1) o Multiple Autoimmune Syndrome type 1 (MAS-1)." L'Endocrinologo 19, no. 1 (2018): 44–45. http://dx.doi.org/10.1007/s40619-018-0394-7.

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Myhre, Anne Grethe, Maria Halonen, Petra Eskelin, et al. "Autoimmune polyendocrine syndrome type 1 (APS I) in Norway." Clinical Endocrinology 54, no. 2 (2001): 211–17. http://dx.doi.org/10.1046/j.1365-2265.2001.01201.x.

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Zarcos Palma, Nuno, Mariana Da Cruz, Lígia Rodrigues Dos Santos, et al. "Autoimmune polyendocrine syndrome type II: After adrenal crisis." Case Reports in Internal Medicine 7, no. 2 (2020): 3. http://dx.doi.org/10.5430/crim.v7n2p3.

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Autoimmune Polyendocrine Syndromes (APS) are rare autoimmune endocrinopathies, characterized by the association of two or more organ-specific disorders. Type II Autoimmune Polyendocrine Syndromes (APS II) comprises the association of Addison’s disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. Although the classic presentation is symptomatic hypotension, it can manifest as an adrenal crisis - a life-threatening condition. We report a case of a 41-year-old woman with prolonged asthenia, cutaneous hyperpigmentation and symptomatic hypotension refractory to intravenous fluids. APS II was diagnosed with a presentation of an Addisonian crisis, resolved after the onset of hydrocortisone.

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Ali, Md Yusuf, H. M. Rashiduzzaman, Mahadi Masud, et al. "A Case Report on Autoimmune Polyendocrine SyndromeType 1." Journal of Medicine 15, no. 1 (2014): 98–101. http://dx.doi.org/10.3329/jom.v15i1.19886.

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Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan dysfunction. The major components of APS type 1 are chronic mucocutaneous candidiasis,hypoparathyroidism and Addisons disease.To establish this syndrome, at least two of these conditions have to be present. We report here one of such case, a 15-year old boy who presented with features of chronic mucocutaneous candidiasis, hypoparathyroidism, primary hypothyroidism,nail dystrophy and dental enamel hypoplasia that were consistent with APS-1.DOI: http://dx.doi.org/10.3329/jom.v15i1.19886 J Medicine 2014; 15: 98-101

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Khamnueva, L. Yu, T. N. Iureva, L. S. Andreeva, and E. V. Chugunova. "Autoimmune polyglandular syndrome type 1 and eye damage." Acta Biomedica Scientifica 6, no. 6-1 (2021): 19–30. http://dx.doi.org/10.29413/abs.2021-6.6-1.3.

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Autoimmune polyendocrine syndrome type 1 (APS type 1) is a disease characterized by a variety of clinical manifestations resulting from the involvement of multiple endocrine and non-endocrine organs in the pathological process. APS type 1 is a rare genetically determined disease with autosomal recessive inheritance. Mutations in the autoimmune regulator gene (AIRE) lead to a disruption of the mechanism of normal antigen expression and the formation of abnormal clones of immune cells, and can cause autoimmune damage to organs. Within APS type 1, the most common disorders are primary adrenal insufficiency, hypoparathyroidism, and chronic candidiasis. Some understudied clinical manifestations of APS type 1 are autoimmune pathological processes in the eye: keratoconjunctivitis, dry eye syndrome, iridocyclitis, retinopathy, retinal detachment, and optic atrophy. This review presents the accumulated experimental and clinical data on the development of eye damage of autoimmune nature in APS type 1, as well as the laboratory and instrumental methods used for diagnosing the disease. Changes in the visual organs in combination with clinical manifestations of hypoparathyroidism, adrenal insufficiency and candidiasis should lead the clinical doctor to suspect the presence of APS type 1 and to examine the patient comprehensively. Timely genetic counselling will allow early identifi cation of the disease, timely prescription of appropriate treatment and prevention of severe complications.

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Haq, Tahniyah, Anisur Rahman, and Shapur Ikhtaire. "Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh." IMC Journal of Medical Science 10, no. 1 (2017): 33–35. http://dx.doi.org/10.3329/imcjms.v10i1.31105.

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We describe a case of a 26 years old man who presented with adrenocortical insufficiency followed by hypoparathyroidism and subsequently mucocutaneous candidiasis. He also had nail dystrophy, cataract and alopecia, but no other endocrinopathies. He was diagnosed as a case of autoimmune polyendocrine syndrome type 1(APS 1). APS1 is a rare endocrine disorder and only a few cases have been reported from Bangladesh.

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Panevin, Taras S., Evgeniy G. Zotkin, and Ekaterina A. Troshina. "Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review." Terapevticheskii arkhiv 95, no. 10 (2023): 881–87. http://dx.doi.org/10.26442/00403660.2023.10.202484.

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Autoimmune polyglandular syndromes (APS) are a heterogeneous group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of central or peripheral immune tolerance. These syndromes are also often accompanied by autoimmune damage to non-endocrine organs. Taking into account the wide range of components and variants of the disease, APS is usually divided into a rare juvenile type (APS 1) and a more common adult type (APS 2–4). APS type 1 is caused by a monogenic mutation, while APS types 2–4 have a polygenic mode of inheritance. One subtype of adult APS (APS 3D) is characterized by a combination of autoimmune thyroid disease and autoimmune rheumatic disease. This review considers the available literature data on combinations that meet the above criteria. Many studies have noted a significantly higher prevalence of rheumatic diseases in patients with autoimmune thyroid disease compared with the control group. Also, as in a number of rheumatic diseases, a more frequent occurrence of autoimmune thyroiditis, primary hypothyroidism and Graves' disease was noted.

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Yukina, Marina Yuryevna, Anna Aleksandrovna Larina, Evgeny Vitalyevich Vasilyev, Ekaterina Anatolyevna Troshina, and Diana Arshaluysovna Dimitrova. "Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins." Clinical Medicine Insights: Endocrinology and Diabetes 14 (January 2021): 117955142110097. http://dx.doi.org/10.1177/11795514211009796.

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Autoimmune polyendocrine syndromes (APS) are a heterogeneous group of diseases characterized by the presence of autoimmune dysfunction of 2 or more endocrine glands and other non-endocrine organs. The components of the syndrome can manifest throughout life: in childhood—APS type 1 (the juvenile type) and in adulthood—APS type 2, 3, and 4 (the adult types). Adult types of APS are more common in clinical practice. It is a polygenic disease associated with abnormalities in genes encoding key regulatory proteins of the major histocompatibility complex (MHC). The search of for candidate genes responsible for mutations in adult APS is continuing. Genetic predisposition is insufficient for the manifestation of the APS of adults, since the penetrance of the disease, even among monozygotic twins, does not approach 100% (30–70%). The article presents the case of isolated Addison’s disease and APS type 2 in monozygotic twins with a revealed compound heterozygosity in the candidate gene VTCN1.

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Green, S. T., J. P. Ng, and D. Chan-Lam. "Insulin-Dependent Diabetes Mellitus, Myasthenia Gravis, Pernicious Anaemia, Autoimmune Thyroiditis and Autoimmune Adrenalitis in a Single Patient." Scottish Medical Journal 33, no. 1 (1988): 213–14. http://dx.doi.org/10.1177/003693308803300112.

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Two classical autoimmune polyendocrine deficiency syndromes with heritable tendencies are described, Type 1 diabetes mellitus being associated with the Type 2 polyendocrine deficiency syndrome (Schmidt's syndrome). A man with Type 1 diabetes mellitus is described who developed an unusual combination of five autoimmune conditions (myasthenia gravis, Addisonian pernicious anaemia, adrenalitis and thyroiditis) which did not fit into the Type 1 or Type 2 classical polyendocrine deficiency syndromes. This suggests that the autoantibody, biochemical and haematological screening of affected individuals and their relatives should be extended to anticipate a wider range of potential autoimmune conditions.

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Jankowska, Katarzyna, Piotr Dudek, Małgorzata Stasiek, and Katarzyna Suchta. "Autoimmune polyendocrine syndromes associated with autoimmune rheumatic diseases." Rheumatology 61, no. 4 (2023): 225–38. http://dx.doi.org/10.5114/reum/170266.

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Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes, are a group of autoimmune diseases characterized by the co-occurrence of dysfunctions of several (at least two) endocrine glands. They develop under the influence of environmental factors in genetically predisposed people. Autoimmune polyendocrine syndromes may accompany autoimmune rheumatic diseases and worsen their course – APS-2 and APS-3 are the most common. The APS-2 includes the coexistence of, e.g. Hashimoto’s disease, celiac disease and rheumatoid arthritis (RA). In APS-3, rheumatic diseases such as RA, systemic lupus erythematosus, and Sjögren’s syndrome may coexist with Hashimoto’s disease, type 1 diabetes and hypogonadism or other endocrinopathies. Undiagnosed endocrine diseases may be the reason for the intensification of metabolic disorders observed in the course of rheumatic diseases, cause the ineffectiveness of rheumatological treatment and also increase the frequency of bone fractures due to osteoporosis, cardiovascular complications and even miscarriages when coexistent, e.g. Hashimoto’s disease with hypothyroiditis, which increases the risk of pregnancy loss. It is important to be able to conduct an extensive interview, paying attention to the symptoms of possible endocrinopathy as well as the features of other autoimmune disorders in the physical examination (e.g. vitiligo or darkening of the skin in Addison’s disease). Depending on the history and physical examination, screening for various APSs is advised.

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Paparella, Roberto, Michela Menghi, Ginevra Micangeli, et al. "Autoimmune Polyendocrine Syndromes in the Pediatric Age." Children 10, no. 3 (2023): 588. http://dx.doi.org/10.3390/children10030588.

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Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions.

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Salam MU, Jumma MA, Ahmad S, et al. "Polyneuropathy and Gastritis in Autoimmune Polyendocrine Syndrome Type 1 in a Young Adult: Uncommon Presentation of a Rare Disease." Journal of Sylhet Women’s Medical College 12, Number 01 (2022): 74–80. http://dx.doi.org/10.47648/jswmc2022v1201-11.

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utoimmune Polyendocrine Syndrome type1 (APS-1), sometimes called, autoimmune polyglandular syndrome type 1, and autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), is a rare recessive disorder with diverse features that occurs due to mutations in the autoimmune regulator (AIRE) gene inducing autoimmunity. This report summarizes the diagnosis of APS 1 in a 17-year-old young man presenting with vomiting, diarrhea, and limb weakness. Investigation reveals mixed features of endocrinopathies including hypoparathyroidism, hypothyroidism, adrenal insufficiency, and hypogonadism. Although autoimmune keratitis, hepatitis, pancreatitis, pneumonitis, and nephritis are common systemic affection of this condition, the reported case presents with severe sensory-motor polyneuropathy and pangastritis. He carries a single heterozygous copy of the missense variant (NM_000383.3 c.841G>A chr21:45709913 p.Ala281Thr) in exon 7 of the AIRE.

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Samoilova, Yu G., M. V. Matveeva, O. A. Oleynik, et al. "Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, no. 1 (2024): 108–13. http://dx.doi.org/10.21508/1027-4065-2024-69-1-108-113.

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Autoimmune polyendocrine syndrome type 1 is a rare autosomal recessive hereditary pathology — a defect in the autoimmune regulator gene (AIRE), which develops with endocrine and non-endocrine manifestations in childhood. The disease is characterized by clinical polymorphism, which makes timely diagnosis difficult. The article describes a clinical case of an 11-year-old patient with autoimmune polyendocrine syndrome type 1, in whom the course of the disease was erased for a long period. The high quality of life of such patients is possible with timely, individually selected substitution therapy, followed by dispensary observation.

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Anik, Md Kamrul Hasan, Mridha Md Shahinuzzaman, Md Wahiduzzaman, and S. M. Masud Hasan. "Fahr’s Syndrome; a rare Presentation of Autoimmune Polyendocrine Syndrome-1 and Carbamazepine-Induced Hypothyroidism." Faridpur Medical College Journal 20, no. 1 (2025): 60–63. https://doi.org/10.3329/fmcj.v20i1.80722.

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Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder. Basal ganglia calcification, also known as Fahr’s disease or Fahr’s syndrome, where generalized or partial seizures are one of the common neurological manifestations. However, Fahr's syndrome secondary to APS-1 is extremely rare. This case report describes a 14-year-old girl diagnosed with Fahr’s syndrome linked to APS type 1 in the medicine department of Faridpur Medical College Hospital, Bangladesh. The patient presented with recurrent episodes of generalized seizures over the last 4 years, accompanied by weight loss and progressive darkening of skin. Additionally, she had history of absent adrenarche, thelarche, puberchae and menarchae. She has been taking oral carbamazepine over the last 4 years for seizure. Laboratory investigation reveals adrenal insufficiency, hypoparathyroidism, hypogonadism, and secondary hypothyroidism. A contrast-enhanced MRI of brain shows findings suggestive of Fahr’s disease. She becomes euthyroid after gradual withdrawal of carbamazepine and initiation of sodium valproate. After administration of glucocorticoid, mineralocorticoid, estradiol, progestin replacement, calcium and Vitamin D supplement her clinical improvement occurred significantly. Eventually her menarchae has started and the patient was referred to Bangladesh Medical University, Dhaka for further management. Faridpur Med. Coll. J. 2025;20(1): 60-63

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Pallotta, Dante Pio, Alessandro Granito, Alberto Raiteri, et al. "Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients." Journal of Clinical Medicine 13, no. 2 (2024): 488. http://dx.doi.org/10.3390/jcm13020488.

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Celiac disease (CD) is frequently associated with other autoimmune disorders. Different studies have explored the association between CD and single autoimmune endocrine disease (AED), especially autoimmune thyroiditis (AIT) and type-1 diabetes mellitus (T1DM). Data about CD as a component of autoimmune polyendocrine syndrome (APS) are scant. We analyzed a large dataset including prospectively collected data from 920 consecutive adult CD patients diagnosed in a third-level Italian institution in the 2013–2023 period, The prevalence of isolated autoimmune endocrine diseases and APS were collected. A total of 262 (28.5%) CD patients had at least one associated AED, with AIT (n = 223, 24.2%) and T1DM (n = 27, 2.9%) being the most frequent conditions. In most cases (n = 173, 66%), AEDs were diagnosed after CD. Thirteen patients (1.4%) had at least two of the requested three endocrinopathies, satisfying the diagnosis of type 2 APS. APS-2 is a rare but not exceptional occurrence among Italian CD patients, underscoring the intricate and multifaceted nature of autoimmune disorders. Periodic evaluations of thyroid function and glycaemia should be recommended after the diagnosis of CD together with testing for autoantibodies that may be helpful in assessing disease risk before disease onset. Likewise, implementation of a systematic screening for CD amongst T1DM and other autoimmune endocrine diseases are paramount.

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Pallayova, Maria, and Dagmar Breznoscakova. "The altered circadian pattern of basal insulin requirements – an early marker of autoimmune polyendocrine syndromes in type 1 diabetes mellitus." Endocrine Regulations 54, no. 2 (2020): 126–32. http://dx.doi.org/10.2478/enr-2020-0015.

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AbstractObjectives. The purpose of the present paper is to propose and introduce novel biomarkers of autoimmune polyendocrine syndromes that are relevant to the early diagnosis and optimal medical management of the patients who already suffer from type 1 diabetes mellitus.Methods. We hypothesize and demonstrate on a case study that various organ-specific autoimmune endocrinopathies can result in lowered basal insulin requirements, leading to unexplained hypoglycemia.Results. It can be hypothesized that hypothyroidism in patients with type 1 diabetes mellitus may deteriorate glycemic control and can lead to an increased rate of hypoglycemia, particularly the overnight and morning hypoglycemia. Thus, the decreased requirements for particularly overnight basal insulin can be an early marker of the autoimmune polyendocrine syndrome-3 with subclinical autoimmune thyroiditis in immune-mediated type 1 diabetes mellitus. Further, it could be proposed that unexplained hypoglycemia during the late afternoon or evening could be an early marker of the autoimmune polyendocrine syndrome-2 with subclinical autoimmune Addison disease in immune-mediated type 1 diabetes mellitus. As a result, an altered circadian pattern of basal insulin requirements can occur, characterized by a decreased late afternoon basal insulin rate.Conclusions. After exclusion of other causes, the unexplained reoccurring hypoglycemia can be a remarkable feature of autoimmune polyendocrine syndromes in immune-mediated type 1 diabetes mellitus on intensive insulin replacement therapy.

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Umscheid, Jacob, Fadi Al Muhaisen, and Naim Mitre. "PMON317 Rapid Progression of Adrenal insufficiency in Child with Autoimmune Polyendocrine Syndrome Type 1." Journal of the Endocrine Society 6, Supplement_1 (2022): A625—A626. http://dx.doi.org/10.1210/jendso/bvac150.1297.

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Abstract Background Autoimmune Polyendocrine Syndrome type 1 (APS-1) is an autosomal recessive rare disease resulting from mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22.3. APS-1 was first described as a syndrome in 1946 as a triad of mucocutaneous candidiasis, primary hypoparathyroidism, and adrenal insufficiency. With an AIRE gene mutation, the immune system will have a T-regulatory cell defect, which leads to a loss of immune tolerance. This will increase the risk of autoimmune disease in the body's organs such as the pancreas, thyroid, adrenal gland, liver, intestine, skin, and parathyroid gland. Clinical case A 6-year-old male was admitted to the pediatric floor for new-onset seizures and tetany. Initial laboratory assessment was concerning for severe hypocalcemia associated with low parathyroid hormone (PTH) and hyponatremia. Blood workup showed: low serum sodium 130 mmol/L (136-144), potassium 4.1 mmol/L(3.4-4.7), carbon dioxide 16 mmol/L; ionized calcium 0.67 mmol/L (1.19-1.41), phosphorus 7.4mg/dL (4.0-7.0), PTH 9.0pg/mL (12.0-88.0). Calcium replacement and calcitriol were initiated with a resolution of symptoms. Further investigations were done for the adrenal gland given his low sodium level. He underwent an ACTH stimulation test that he passed, with a cortisol baseline of 39mcg/dl with a peak of 48mcg/dl. ACTH level was high at 120pg/mL (5-27), and a repeat in 4 weeks was normal at 11pg/ml. His renin activity was elevated at 71ng/ml/hr (1.5-3.5). Renin activity was repeated and was elevated again at 34ng/ml/hr, prompting adrenal antibody testing, which revealed an elevated titer 1: 10 (&lt;1: 10). Due to concern for APS-1, genetic testing was obtained and revealed a pathological variant of AIRE of c.892G&gt;A and c.967_979del consistent with APS-1. He was started on 0.1mg Florinef and was later followed routinely at an outpatient endocrinology clinic. Fifteen months after diagnosis, he had a repeat ACTH stimulation test, and his baseline cortisol was 9.1mcg/dl with a peak at 60 minutes of 9.6mcg/dl (&lt;18). ACTH level was elevated at 425pg/ml at this time. He was started on hydrocortisone replacement. Of note, investigation of siblings revealed a 10-month-old sister with abnormal AIRE mutation and a 17-month-old sister with unexplained death. Conclusion APS-1 can affect multiple organs, and cases can significantly vary in age and the number of affected organs at presentation. The patient presented with atypical presentation as he had hypocalcemia and hypoparathyroidism as an initial abnormality. Typically, adrenal insufficiency appears in the second decade of life but, the patient has it at the time of diagnosis, and it rapidly progresses. Family history plays an essential role in investigating autoimmune disease and warrants further assessment for autoimmune markers. While typically a disease that progresses insidiously into adulthood, cases like ours demonstrate rapid autoimmune disease progression. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

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Sharifa, DA Alisa, Taha Elawad Areej, NA Aljurayyan Rushaid, and A. M. Aljurayyan Nasir. "Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?" World Journal of Biology Pharmacy and Health Sciences 13, no. 2 (2023): 005–8. https://doi.org/10.5281/zenodo.7948484.

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Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female. In this manuscript, we describe a nine year old child diagnosed at three years of age with Autoimmune Polyendocrine Syndrome type-1 (APS-1). The external genitalia was of normal female with no hernia. Parents initially declined any endocrine disorder in the family. Genetic study, which was recently available to us, revealed an X-linked recessive (AR) gene associated with androgen insensitivity in a 46 XY individual. Screening the family indicated that the maternal aunt is also having androgen insensitivity. Parents then admitted that they knew that they have a child with testicular feminization. The management of this disorder and the importance of education are highlighted.

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Wolff, Anette S. B., Sarah Braun, Eystein S. Husebye, and Bergithe E. Oftedal. "B Cells and Autoantibodies in AIRE Deficiency." Biomedicines 9, no. 9 (2021): 1274. http://dx.doi.org/10.3390/biomedicines9091274.

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Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare but severe monogenetic autoimmune endocrine disease caused by failure of the Autoimmune Regulator (AIRE). AIRE regulates the negative selection of T cells in the thymus, and the main pathogenic mechanisms are believed to be T cell-mediated, but little is known about the role of B cells. Here, we give an overview of the role of B cells in thymic and peripheral tolerance in APS-1 patients and different AIRE-deficient mouse models. We also look closely into which autoantibodies have been described for this disorder, and their implications. Based on what is known about B cell therapy in other autoimmune disorders, we outline the potential of B cell therapies in APS-1 and highlight the unresolved research questions to be answered.

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Marchese, Serena, Elisabetta Raso, Rossana Dolce, et al. "Un calciatore a cui tremano le gambe: un caso di ipoparatiroidismo." Medico e Bambino Pagine elettroniche 27, no. 9 (2024): 193–95. http://dx.doi.org/10.53126/mebxxviin193.

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The paper presents the case of a 13-year-old athlete who experienced sudden tremors, limb pain, hand spasms and severe hypocalcemia (6 mg/dl). Tests revealed low parathyroid hormone (PTH), hyperphosphatemia and low vitamin D levels. The diagnosis of autoimmune hypoparathyroidism was made and treated with calcium and vitamin D. During hospitalization, Hashimoto’s thyroiditis and transient hyperthyroidism were also identified. Suspecting Autoimmune Polyendocrine Syndrome Type 1 (APS-1), AIRE mutations are being tested.

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Piovani, Elda, Giorgia Ingrid Gozzoli, Silvia Della Pina, et al. "A CASE-CONTROL STUDY ON AUTOIMMUNE POLYENDOCRINE SYNDROMES IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS." Journal of Rheumatology 52, Suppl 1 (2025): 209.3–210. https://doi.org/10.3899/jrheum.2025-0390.pv211.

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PV211 / #363Poster Topic:AS23 - SLE-Diagnosis, Manifestations, & OutcomesBackground/PurposeSystemic lupus erythematosus (SLE) is a complex autoimmune disease that can impact multiple organs, including joints, kidneys, skin, heart, blood cells, lungs, and nervous system. SLE patients face a higher risk of various comorbidities and treatment-related complications, with an increased mortality rate compared to the general population. Studies on observational cohorts have identified cardiovascular diseases, diabetes mellitus type 2 (T2DM), osteoporosis, certain types of cancer, and autoimmune endocrine disease, such as Hashimoto’s thyroiditis (HT), Graves’ disease (GD), type 1 diabetes mellitus (T1DM) and hyperparathyroidism, as common cause of morbidity in SLE patients. However, to our knowledge, no data currently exist on the connection between SLE and Autoimmune Polyendocrine Syndromes (APS), which are rare diseases characterized by multiple autoimmune conditions affecting at least 1 endocrine organ. APS 1 is due to gene AIRE mutations; APS 2 is characterized by Addison’s disease (AD) associated with HT or GD and/or T1DM; HT or GD with any other autoimmune diseases (excluding AD and hypoparathyroidism) fall under APS 3; APS 4 includes remaining combinations of autoimmune forms having an impact on endocrine organs. This study aimed to investigate the prevalence of Autoimmune Polyendocrine Syndromes (APS) in patients with Systemic Lupus Erythematosus (SLE) and to assess whether APS predicts higher disease activity or worse outcomes.MethodsClinical charts of 417 SLE patients referring to our Center between 2021 and 2023 were analyzed. APS cases were identified using ORPHA code definitions; 185 APS-free SLE patients, randomly enrolled, served as controls. Demographic, clinical and serological data were collected.ResultsForty-seven (11%) SLE patients have another autoimmune disease affecting the glands that allows the diagnosis of APS: 39 were diagnosed with HT, 6 with GD, and 3 with T1DM. Forty-five patients were affected by APS type 3, and 2 by APS type 4; no patients were diagnosed with APS type 1 or 2. Table 1 show the sequence in which autoimmune diseases manifest. SLE was the first manifestation of APS in 22 patients (47%). HT was the first autoimmune manifestation for 21 (45%) patients, GD was the first for 2 (4%) patients and 2 women started with rheumatoid arthritis (2%) and autoimmune urticaria (2%), respectively. SLE was the second manifestation in 23 (49%) patients and the fourth for 2 (4%) patients. The comparison between APS+ and APS- patients, as shown in Table 2, revealed no significant differences in clinical or serological features, except for pulmonary hypertension (p=0.044) and renal microangiopathy (p=0.044). At the last evaluation, approximately 80% of both groups’ patients were in clinical remission and approximately half of the patients were still on steroid therapy. APS+ patients had a slightly higher median damage index (SLICC-SDI), although this was not associated with increased disease activity.Table 1.Sequence of autoimmune diseases presentation in patients with SLE and APSTable 2.Comparision of data in SLE patients with and without APSConclusionsThe prevalence of APS among SLE patients is significantly higher than in the general population (11% vs 0,005%), confirming the well-known association between autoimmune thyroiditis and SLE. However, APS+ patients do not appear to have a more aggressive disease or develop more complications. The only clinical conditions statistically associated with APS (renal microangiopathy and pulmonary hypertension) are so rare that no definite conclusions can be drawn. Limitations of the study include a small sample size and single-timepoint data, highlighting the need for larger multicenter studies to clarify the link between SLE and APS.

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Bensing, Sophie, Sergueï O. Fetissov, Jan Mulder, et al. "Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1." Proceedings of the National Academy of Sciences 104, no. 3 (2007): 949–54. http://dx.doi.org/10.1073/pnas.0610070104.

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Bruserud, Øyvind, Huma Siddiqui, Mihaela Cuida Marthinussen, et al. "Oral microbiota in autoimmune polyendocrine syndrome type 1." Journal of Oral Microbiology 10, no. 1 (2018): 1442986. http://dx.doi.org/10.1080/20002297.2018.1442986.

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Sozaeva, L. S., M. E. Karmanov, L. Breivik, E. Husbi, and M. A. Kareva. "The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)." Problems of Endocrinology 61, no. 3 (2015): 4–8. http://dx.doi.org/10.14341/probl20156134-8.

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This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ω antibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.

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Orlova, Elizaveta Mikhaylovna, Leyla Salikhovna Sozaeva, Maksim Evgen'evich Karmanov, Lars Ertesvåg Breivik, Eystein Sverre Husebye, and Mariya Andreevna Kareva. "The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)." Problems of Endocrinology 61, no. 5 (2015): 9–13. http://dx.doi.org/10.14341/probl20156159-13.

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This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ωantibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.

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Perniola, Roberto. "Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance." Clinical and Developmental Immunology 2012 (2012): 1–12. http://dx.doi.org/10.1155/2012/207403.

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The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its related protein, AIRE, activates the transcription of genes encoding for tissue-specific antigens (TsAgs) in a subset of medullary thymic epithelial cells: the presentation of TsAgs to the maturating thymocytes induces the apoptosis of the autoreactive clones and constitutes the main form of central tolerance. Dysregulation of thymicAIREexpression in genetically transmitted and acquired diseases other than APS-1 may contribute to further forms of autoimmunity. AsAIREand its murine homolog are also expressed in the secondary lymphoid organs, the extent and relevance of AIRE participation in the mechanisms of peripheral tolerance need to be thoroughly defined.

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Jokinen, Martta, Sanna Edelman, Kai Krohn, Matti Kankainen, and Annamari Ranki. "Neutralizing natural anti-IL-17F autoantibodies protect Autoimmune Polyendocrine Syndrome Type 1 (APS-1) patients from asthma." Clinical Immunology 219 (October 2020): 108512. http://dx.doi.org/10.1016/j.clim.2020.108512.

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Sharifa DA Alisa, Areej Taha Elawad, Rushaid NA Aljurayyan, and Nasir. A. M Aljurayyan. "Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?" World Journal of Biology Pharmacy and Health Sciences 13, no. 2 (2023): 005–8. http://dx.doi.org/10.30574/wjbphs.2023.13.2.0072.

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Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female. In this manuscript, we describe a nine year old child diagnosed at three years of age with Autoimmune Polyendocrine Syndrome type-1 (APS-1). The external genitalia was of normal female with no hernia. Parents initially declined any endocrine disorder in the family. Genetic study, which was recently available to us, revealed an X-linked recessive (AR) gene associated with androgen insensitivity in a 46 XY individual. Screening the family indicated that the maternal aunt is also having androgen insensitivity. Parents then admitted that they knew that they have a child with testicular feminization. The management of this disorder and the importance of education are highlighted.

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Sinha, R., AR Chapman, GT Reid, and PC Hayes. "Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1." Journal of the Royal College of Physicians of Edinburgh 45, no. 2 (2015): 136–40. http://dx.doi.org/10.4997/jrcpe.2015.210.

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Brad, Giorgiana-Flavia, Delia-Maria Nicoară, Alexandra-Cristina Scutca, et al. "Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1—A Case Study and Literature Review." Journal of Clinical Medicine 13, no. 8 (2024): 2368. http://dx.doi.org/10.3390/jcm13082368.

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Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the AIRE gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of AIRE gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions.

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Weiler, Fernanda Guimarães, Magnus R. Dias-da-Silva, and Marise Lazaretti-Castro. "Autoimmune polyendocrine syndrome type 1: case report and review of literature." Arquivos Brasileiros de Endocrinologia & Metabologia 56, no. 1 (2012): 54–66. http://dx.doi.org/10.1590/s0004-27302012000100009.

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Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

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Gonciarz, Maciej, Michał Krogulecki, Dorota Brodowska-Kania, Szczepan Cierniak, and Grzegorz Kamiński. "Delay in Diagnosis of Autoimmune Polyendocrine Syndrome Type 2 as a Consequence of Misinterpretation of Gastrointestinal Symptoms." Case Reports in Gastrointestinal Medicine 2022 (March 23, 2022): 1–3. http://dx.doi.org/10.1155/2022/6623020.

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Background. Type 2 autoimmune polyendocrine syndrome (APS-2) is characterized by the presence of at least two of three endocrinopathies: Addison’s disease, autoimmune thyroiditis, and diabetes type 1. The prevalence of APS-2 is estimated to be 1 : 1000 to 1 : 20.000 in the general population. Diagnosis of APS-2 often is delayed due to its rarity and wide spectrum of clinical symptoms. Case Presentation. A 27-year-old presented with a 6-month history of abdominal pain, vomiting, diarrhea, weakness, fatigue, and 15 kg of weight loss. The patient was diagnosed with Crohn’s disease in a local hospital and referred to our institution because of treatment failure. Colonoscopy performed in this hospital identified irregular mucosal erosions in terminal ileum, and the microscopy of biopsy specimens demonstrated nonspecific inflammation. On physical examination, the patient appeared cachectic. Blood pressure was 90/60 mmHg. Laboratory results were significant for severe hyponatremia and mild hyperkalemia. Morning cortisol was low, and adrenocorticotropic hormone (ACTH) concentration was high. An ACTH stimulation test did not present any increase in serum cortisol, which confirmed primary adrenal insufficiency. Antithyroid peroxidase antibody (anti-TPO) as well as both anti-21-hydroxylase antibodies and antiglutamic acid decarboxylase antibodies (GAD65) were positive. So, the diagnosis of APS-2 was made, and the replacement doses of hydrocortisone and fludrocortisone has brought a rapid improvement in all clinical symptoms; colonoscopy showed normal. Conclusion. The case presented herein highlights rapidly progressive nature of untreated APS-2 and that the diagnosis of APS-2 may be challenging.

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Alimohammadi, Mohammad, Peyman Björklund, Åsa Hallgren, et al. "Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen." New England Journal of Medicine 358, no. 10 (2008): 1018–28. http://dx.doi.org/10.1056/nejmoa0706487.

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Bruserud, Øyvind, Bergithe E. Oftedal, Nils Landegren, et al. "A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1." Journal of Clinical Endocrinology & Metabolism 101, no. 8 (2016): 2975–83. http://dx.doi.org/10.1210/jc.2016-1821.

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Deng, Mingqun, Han Wu, Miao Yu, Yi Tian, Yuxiu Li, and Xinhua Xiao. "Co-Occurrence of Multiple Endocrine Abnormalities Induced by the DIHS/DRESS." International Journal of Endocrinology 2019 (October 3, 2019): 1–8. http://dx.doi.org/10.1155/2019/7959615.

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Background. Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS) is a severe adverse reaction caused by specific drugs. However, little information is available about sequelae following DIHS/DRESS resolution from an endocrinologist’s perspective. This study aimed to investigate the endocrine sequelae following DIHS/DRESS, from clinical feature to etiology. Methods. We retrospectively analyzed the patients diagnosed with DIHS/DRESS in Peking Union Medical College Hospital (PUMCH) during the period of 1 January 2012 to 31 December 2017, and those who developed endocrine disorders after DIHS/DRESS were further examined. We also reviewed the literature, from 1 January 2000 to 31 December 2017, on involvement of endocrine glands in DIHS/DRESS patients. Results. Three patients developed both autoimmune thyroid disease (AITD) and type 1 diabetes (T1DM)/fulminant type 1 diabetes (FT1DM) of the 45 patients. Seven cases involving more than two endocrine glands were reported in the literature. Our results indicated that DIHS/DRESS is a potential etiological factor of autoimmune polyendocrine syndrome (APS), especially APS III. Conclusions. Patients require careful long-term follow-up after DIHS/DRESS. Involvement of endocrine glands, especially FT1DM, should always be monitored in patients with a history of DIHS/DRESS. This study indicated that DIHS/DRESS could lead to APS, especially APS III, providing novel insights into the etiological factors of APS.

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Shi, Yun, Min Shen, Xuqin Zheng, et al. "ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management." Journal of Clinical Endocrinology & Metabolism 105, no. 12 (2020): e4208-e4218. http://dx.doi.org/10.1210/clinem/dgaa553.

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Abstract Context Immune checkpoint inhibitors (ICPis) targeting cytotoxic T-lymphocyte antigen 4 (CTLA-4), programmed cell death protein 1 (PD-1), and its ligand (PD-L1) are now approved to treat a variety of cancers. However, ICPis therapy is associated with a risk of immune-related adverse events (irAEs). Autoimmune polyendocrine syndrome type 2 (APS-2) is a rare endocrine irAE. Evidence Acquisition Several databases (PubMed, Web of Science, Cochrane Central Registry of Controlled Trials, ClinicalTrials.gov, and Scopus) were searched up to February 18, 2020, for case reports on endocrine irAEs and ICPis. The reported side effects and adverse events of the ICPis therapy in the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) adverse events pharmacovigilance registries are also included. Evidence Synthesis Here, we provide an overview of all published and reported cases (n = 30) of ICPis-induced APS-2. We summarize the clinical characteristics, autoantibodies, human leukocyte antigen (HLA) genotypes, and therapies and propose an APS-2 screening strategy. Conclusions Given the life-threatening risks of endocrine dysfunction if it is not promptly recognized (such as diabetic ketoacidosis and acute adrenal crisis), physicians (especially endocrinologists and oncologists) should be familiar with APS-2. After diagnosis of an autoimmune disease induced by ICPis (especially PD-1 inhibitors), patients with a high-risk HLA allele (HLA-DR4) require close monitoring for the development of APS-2.

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Savvateeva, Elena N., Marina Yu Yukina, Nurana F. Nuralieva, Marina A. Filippova, Dmitry A. Gryadunov, and Ekaterina A. Troshina. "Multiplex Autoantibody Detection in Patients with Autoimmune Polyglandular Syndromes." International Journal of Molecular Sciences 22, no. 11 (2021): 5502. http://dx.doi.org/10.3390/ijms22115502.

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The diagnosis of autoimmune polyglandular syndrome (APS) types 1/2 is difficult due to their rarity and nonspecific clinical manifestations. APS-1 development can be identified with assays for autoantibodies against cytokines, and APS-2 development with organ-specific antibodies. In this study, a microarray-based multiplex assay was proposed for simultaneous detection of both organ-specific (anti-21-OH, anti-GAD-65, anti-IA2, anti-ICA, anti-TG, and anti-TPO) and APS-1-specific (anti-IFN-ω, anti-IFN-α-2a, and anti-IL-22) autoantibodies. Herein, 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine pathologies and from healthy donors were analyzed. The prevalence of autoantibodies differed among the groups of healthy donors and patients with non-, mono- and multi-endocrine diseases. APS-1 patients were characterized by the presence of at least two specific autoantibodies (specificity 99.5%, sensitivity 100%). Furthermore, in 16 of the 18 patients, the APS-1 assay revealed triple positivity for autoantibodies against IFN-ω, IFN-α-2a and IL-22 (specificity 100%, sensitivity 88.9%). No anti-cytokine autoantibodies were found in the group of patients with non-APS-1 polyendocrine autoimmunity. The accuracy of the microarray-based assay compared to ELISA for organ-specific autoantibodies was 88.8–97.6%. This multiplex assay can be part of the strategy for diagnosing and predicting the development of APS.

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Yodoshi, T., D. G. Valdes, I. Siddiqui, B. Ngan, A. Muise, and M. J. Gould. "A105 CHRONIC DIARRHOEA AND ELEVATED LIVER ENZYMES IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1." Journal of the Canadian Association of Gastroenterology 6, Supplement_1 (2023): 57. http://dx.doi.org/10.1093/jcag/gwac036.105.

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Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a rare inherited autoimmune disease, characterized by primary adrenocortical insufficiency and hypoparathyroidism. Pathologic mutations in the autoimmune regulator (AIRE) gene, which participates in the regulation of T-cell self-tolerance can lead to APS-1. Defective function of AIRE encourages production of multiple anti-cytokine and organ-specific autoantibodies, leading to severe autoimmune disease across multiple organs. Autoimmune enteropathy is one of the autoimmune conditions associated with APS-1. Symptoms include chronic diarrhoea and weight loss. Extraintestinal manifestations can include haemolytic anaemia and hepatitis. Purpose To report on a patient with APS-1 who exhibited exacerbations of acute-on-chronic diarrhoea and transaminitis. Method We describe the case of a 14-year-old female, the first child of healthy, first-cousin consanguineous parents, with a history of APS type 1 with a homozygous disease-causing variant in the AIRE gene (c.415C&gt;T, p.139*), hypoparathyroidism and Addison’s disease who presented with worsening diarrhoea and unintentional weight loss (15kg) in the past year. Upper and lower endoscopies performed 10 months and 2 months prior to this admission revealed chronic gastritis and patchy active colitis, without features of a specific etiology. Enteroendocrine cells were present. Celiac disease, inflammatory bowel disease, eosinophilic gastroenteritis, and IPEX syndrome were clinically and histologically ruled out. Result(s) On admission, the patient was having five watery stools per day with associated hypocalcemia and hypokalemia which were felt to be more resistant to treatment than should be explained by her Addison’s disease alone. Albumin was preserved (46 g/L). A stool PCR test for Adenovirus was positive, though serum adenovirus PCR was negative. ALT was 231 U/L and AST was 283 U/L. IgG level was elevated (17.7 g/L), anti-nuclear antibody (ANA) was positive (1:320), and anti-smooth muscle antibody (ASMA) was also positive (1:160). It was therefore suspected that he had autoimmune enteropathy and autoimmune hepatitis, and a liver biopsy was performed as well as upper and lower endoscopies. Liver biopsy demonstrated only minimal macrosteatosis (less than 5%) but no evidence of hepatitis. No abnormal endoscopic findings were observed. Histology showed no typical features of autoimmune enteropathy. Enteroendocrine cells were noted in both small and large intestinal biopsies. Her elevated liver enzymes and diarrhea were resolved spontaneously over a 2-week period. Conclusion(s) We present a patient with APS-1 with acute-on-chronic diarrhoea and transaminitis with elevated IgG and positive ANA and ASMA. Endoscopy and liver biopsy did not reveal evidence of autoimmune enteropathy or autoimmune hepatitis. This case raises the importance of maintaining a broad differential diagnosis when diarrhoea is encountered in APS-1 as this may occur for reasons outside of autoimmune enteroendocrine cell loss. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared ENDOSCOPY, TECHNOLOGY & IMAGING

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Rojas, Joselyn, Marjorie Villalobos, María Sofía Martínez, et al. "Successful Management of Insulin Allergy and Autoimmune Polyendocrine Syndrome Type 4 with Desensitization Therapy and Glucocorticoid Treatment: A Case Report and Review of the Literature." Case Reports in Immunology 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/394754.

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Introduction. Insulin allergy is a rare complication of insulin therapy, especially in type 1 diabetes mellitus (T1DM). Key manifestations are hypersensitivity-related symptoms and poor metabolic control. T1DM, as well as insulin allergy, may develop in the context of autoimmune polyendocrine syndrome (APS), further complicating management.Case Report. A 17-year-old male patient, diagnosed with T1DM, was treated with various insulin therapy schemes over several months, which resulted in recurrent anaphylactoid reactions and poor glycemic control, after which he was referred to our Endocrinology and Immunology Department. A prick test was carried out for all commercially available insulin presentations and another insulin scheme was designed but proved unsuccessful. A desensitization protocol was started with Glargine alongside administration of Prednisone, which successfully induced tolerance. Observation of skin lesions typical of vitiligo prompted laboratory workup for other autoimmune disorders, which returned positive for autoimmune gastritis/pernicious anemia. These findings are compatible with APS type 4.Discussion. To our knowledge, this is the first documented case of insulin allergy in type 4 APS, as well as this particular combination in APS. Etiopathogenic components shared by insulin allergy and APS beg for further research in immunogenetics to further comprehend pathophysiologic aspects of these diseases.

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Oikonomou, Vasileios, Grace Smith, Gregory M. Constantine та ін. "The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1". New England Journal of Medicine 390, № 20 (2024): 1873–84. http://dx.doi.org/10.1056/nejmoa2312665.

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Haruta, Masatoshi, Takuya Tsuji, and Shigeo Yoshida. "Ultra-Widefield OCT in Retinopathy of Autoimmune Polyendocrine Syndrome Type 1." Ophthalmology Retina 5, no. 1 (2021): 9. http://dx.doi.org/10.1016/j.oret.2020.06.007.

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Fardi Golyan, Fatemeh, Nosrat Ghaemi, Mohammad Reza Abbaszadegan, et al. "Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1." Immunobiology 224, no. 6 (2019): 728–33. http://dx.doi.org/10.1016/j.imbio.2019.09.004.

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Özdemir, Ö. "Behçet Disease in a Patient with Autoimmune Polyendocrine Syndrome -Type 1." Journal of Allergy and Clinical Immunology 119, no. 1 (2007): S19. http://dx.doi.org/10.1016/j.jaci.2006.11.089.

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Vendrame, Francesco, Maria Segni, Daniele Grassetti, et al. "Impaired Caspase-3 Expression by Peripheral T Cells in Chronic Autoimmune Thyroiditis and in Autoimmune Polyendocrine Syndrome-2." Journal of Clinical Endocrinology & Metabolism 91, no. 12 (2006): 5064–68. http://dx.doi.org/10.1210/jc.2006-1358.

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Abstract Context: Activation-induced cell death (AICD) is a major mechanism in the regulation of peripheral tolerance, and caspase-3 represents its major executioner. AICD impairment contributes to the persistence of autoreactive T cells, and defective AICD has been reported in autoimmune thyroiditis as well as in type 1 diabetes mellitus. Objective: The objective of this study was to evaluate the involvement of caspase-3 in the regulation of AICD resistance in thyroid and polyendocrine autoimmunity. Design/Settings/Patients/Intervention: Caspase-3 expression was analyzed in peripheral blood lymphocytes from 26 adults (A-AT) and 25 children (Y-AT) affected by autoimmune thyroiditis and 13 individuals affected by chronic autoimmune thyroiditis plus Addison’s disease [autoimmune polyendocrine syndrome-2 (APS-2)] in comparison with 32 age-matched normal control subjects (NC). Outcome Measures: Caspase-3 mRNA expression in peripheral T cells was evaluated by quantitative real-time PCR; protein expression of both procaspase-3 and activated caspase-3 by Western blot analysis was followed by scanning densitometry. Results: Caspase-3 mRNA expression was significantly reduced in resting lymphocytes from both A-AT (P = 0.001) and Y-AT (P = 0.016) compared with NC. After lymphocyte activation, protein levels of caspase-3 active form were significantly reduced in A-AT (P = 0.023) and Y-AT (P = 0.001) compared with NC. The APS-2 group displayed characteristics similar to the A-AT group because both caspase-3 mRNA and protein active form levels were significantly reduced compared with NC (P = 0.004 and 0.002, respectively). Conclusion: Our data show that peripheral lymphocytes of subjects affected by thyroid autoimmunity or APS-2 show defective expression of the major executioner of AICD, thus potentially contributing to AICD resistance and to the development of autoimmunity.

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Piovani, E., G. I. Gozzoli, P. Bizioli, et al. "AB0645 PREVALENCE AND DESCRIPTION OF AUTOIMMUNE POLYENDOCRINE SYNDROMES IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS: EXPERIENCE OF A SINGLE CENTER." Annals of the Rheumatic Diseases 82, Suppl 1 (2023): 1524.2–1525. http://dx.doi.org/10.1136/annrheumdis-2023-eular.4743.

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BackgroundAutoimmune polyendocrine syndromes (APS) are a heterogeneous group of clinical conditions characterized by functional alteration of one or more endocrine glands and often associated with other systemic autoimmune diseases. Four types of APS have been described. APS-1 is a rare autosomal recessive disease due to mutation in the AIRE gene and characterized by at least two of the following manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism and Addison’s Disease (AD). APS-2 is characterized by AD associated with Diabetes Mellitus Type 1 (DM1) and/or autoimmune thyroid disease. APS-3 involves the association of autoimmune thyroiditis and other organic or systemic autoimmune manifestations, excluding hypoparathyroidism and AD. APS-4 is characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. In literature, data regarding prevalence and incidence of APS are poor, especially in the Rheumatology field.ObjectivesThe primary objective of the work is to describe the prevalence of APS in a cohort of patients with Systemic Lupus Erythematosus (SLE) followed in our Department and to assess the possible association between organic autoimmune diseases and SLE. The secondary aim is to describe the timing of onset of the different autoimmune diseases and the presence of associated comorbidities and/or any feature that may predict the development of APS.MethodsIn this retrospective observational study we included the medical history, biochemical, and immunological data of patients older than 18 years of age with SLE who are actively followed at the Department of Rheumatology and Clinical Immunology of our hospital. Patients who, in addition to the diagnosis of SLE, had at least one other autoimmune disorder against an endocrine organ were included in the study.ResultsThe total number of SLE patients examined is 423, with a mean age at the last evaluation of 53 (±13), 393 were female (93%) and 30 male (7%). Forty-eight patients (11.3%) have at least one other endocrinological autoimmune disease that would allow the diagnosis of APS. The sample examined is composed of 46 (96%) females and 2 (4%) males (F:M=23:1). The mean age of the patients is 52 (±14) years; the mean age of SLE onset is 36 (±14) years. No cases of APS-1 nor APS-2 were found; 45 (94%) patients are affected by APS-3; while 3 (6%) by APS-4. Forty-three (90%) patients presented two autoimmune diseases and 5 (10%) presented three autoimmune diseases. The mean age at onset of the first disease is 31 (±12) years; the second manifestation is 39 (±13) years and the third manifestation is 37 (±11) years. Concerning the timing of the onset, SLE was the first manifestation in 17/48 patients, the second manifestation in 25 patients, the third manifestation in 1 patient and in 5 patients the diseases were diagnosed at the same time.Figure 1shows the different conditions according to the time of onset. The mean latency between the onset of the first manifestation and the onset of the second is 9 (±9) years. The mean latency between the onset of the second manifestation and the onset of the third is 4 (±3) years.Figure 1.Time of onset of APS different pathologiesConclusionIn our cohort of SLE patients, the prevalence of APS is quite high and occurs proportionally more in females than in males. Hashimoto’s Thyroiditis (HT) is the most represented disease, followed by Graves’ disease and DM1. In most cases, SLE is not the first autoimmune disease that appears in these patients. In most cases, the onset pathology is autoimmune thyroiditis. Furthermore, although the available data are scarce, in our cohort the latency between the onset of the first and second autoimmune pathology is significantly longer than the latency between the second and third manifestation.REFERENCES:NIL.Acknowledgements:NIL.Disclosure of InterestsNone Declared.

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Cinque, Luigia, Cristina Angeletti, Alfredo Orrico, et al. "Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature." Biomedicines 8, no. 12 (2020): 631. http://dx.doi.org/10.3390/biomedicines8120631.

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Background. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, AIRE, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tolerance to organ-specific antigens and autoimmune reactions towards peripheral tissues caused by the underlying molecular defect. Thus, early recognition of the syndrome is often delayed, mostly in cases with atypical presentation, and the molecular confirm through the genetic analysis of the AIRE gene might be of great benefit. Methods. Our methods were to investigate, with a multigene panel next generation sequencing approach, two clinical cases, both presenting with idiopathic hypoparathyroidism, also comprising the AIRE gene; as well as to comment our findings as part of a more extensive review of literature data. Results. In the first clinical case, two compound heterozygote pathogenic variants of the AIRE gene were identified, thus indicating an autosomal recessive inheritance of the disease. In the second case, only one AIRE gene variant was found and an atypical dominant negative form of APS-1 suggested, later confirmed by further medical ascertainments. Conclusions. APS-1 might present with variable and sometimes monosymptomatic presentations and, if not recognized, might associate with severe complications. In this context, next generation diagnostics focused on a set of genes causative of partially overlapping disorders may allow early diagnosis.

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Betterle, Corrado, Chiara Dal Pra, Franco Mantero, and Renato Zanchetta. "Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction." Endocrine Reviews 23, no. 3 (2002): 327–64. http://dx.doi.org/10.1210/edrv.23.3.0466.

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Abstract Recent progress in the understanding of autoimmune adrenal disease, including a detailed analysis of a group of patients with Addison’s disease (AD), has been reviewed. Criteria for defining an autoimmune disease and the main features of autoimmune AD (history, prevalence, etiology, histopathology, clinical and laboratory findings, cell-mediated andhumoral immunity, autoantigens and their autoepitopes, genetics, animal models, associated autoimmune diseases, pathogenesis, natural history, therapy) have been described. Furthermore, the autoimmune polyglandular syndromes (APS) associated with AD (revised classification, animal models, genetics, natural history) have been discussed. Of Italian patients with primary AD (n = 317), 83% had autoimmune AD. At the onset, all patients with autoimmune AD (100%) had detectable adrenal cortex and/or steroid 21-hydroxylase autoantibodies. In the course of natural history of autoimmune AD, the presence of adrenal cortex and/or steroid 21-hydroxylase autoantibodies identified patients at risk to develop AD. Different risks of progression to clinical AD were found in children and adults, and three stages of subclinical hypoadrenalism have been defined. Normal or atrophic adrenal glands have been demonstrated by imaging in patients with clinical or subclinical AD. Autoimmune AD presented in four forms: as APS type 1 (13% of the patients), APS type 2 (41%), APS type 4 (5%), and isolated AD (41%). There were differences in genetics, age at onset, prevalence of adrenal cortex/21-hydroxylase autoantibodies, and associated autoimmune diseases in these groups. “Incomplete” forms of APS have been identified demonstrating that APS are more prevalent than previously reported. A varied prevalence of hypergonadotropic hypogonadism in patients with AD and value of steroid-producing cells autoantibodies reactive with steroid 17α-hydroxylase or P450 side-chain cleavage enzyme as markers of this disease has been discussed. In addition, the prevalence, characteristic autoantigens, and autoantibodies of minor autoimmune diseases associated with AD have been described. Imaging of adrenal glands, genetic tests, and biochemical analysis have been shown to contribute to early and correct diagnosis of primary non-autoimmune AD in the cases of hypoadrenalism with undetectable adrenal autoantibodies. An original flow chart for the diagnosis of AD has been proposed.

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Ariolli, Andrea, Emanuele Agolini, Tommaso Mazza, et al. "The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation." International Journal of Molecular Sciences 25, no. 20 (2024): 10994. http://dx.doi.org/10.3390/ijms252010994.

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Autoimmune polyglandular syndrome (APS) comprises a complex association of autoimmune pathological conditions. APS Type 1 originates from loss-of-function mutations in the autoimmune regulator (AIRE) gene. APS2, APS3 and APS4 are linked to specific HLA alleles within the major histocompatibility complex, with single-nucleotide polymorphisms (SNPs) in non-HLA genes also contributing to disease. In general, variability in the AIRE locus and the presence of heterozygous loss-of-function mutations can impact self-antigen presentation in the thymus. In this study, whole-exome sequencing (WES) was performed on a sixteen-year-old female APS3A/B patient to investigate the genetic basis of her complex phenotype. The analysis identified two variants (p.Arg111Trp and p.Thr101Ile) of the hepatitis A virus cell receptor 2 gene (HAVCR2) encoding for the TIM-3 (T cell immunoglobulin and mucin domain 3) protein. These variants were predicted, through in silico analysis, to impact protein structure and stability, potentially influencing the patient’s autoimmune phenotype. While confocal microscopy analysis revealed no alteration in TIM-3 fluorescence intensity between the PBMCs isolated from the patient and those of a healthy donor, RT-qPCR showed reduced TIM-3 expression in the patient’s unfractionated PBMCs. A screening conducted on a cohort of thirty APS patients indicated that the p.Thr101Ile and p.Arg111Trp mutations were unique to the proband. This study opens the pathway for the search of TIM-3 variants possibly linked to complex autoimmune phenotypes, highlighting the potential of novel variant discovery in contributing to APS classification and diagnosis.

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Sozaeva, L. S. "The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome." Problems of Endocrinology 61, no. 3 (2015): 43–46. http://dx.doi.org/10.14341/probl201561343-46.

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Abstract:

Type 1 autoimmune polyglandular syndrome (type 1APS) is a rare genetic disease resulting from mutations in the AIRE gene. Diagnostics of this pathology is based not only on the results of genetic studies but also on the measurement of the level of antibodies against type 1 interferons, such as interferon-ω and interferon-α2. The present review of the literature is focused on type 1 interferons, anti-interferon antibodies, and pathophysiological characteristics of the processes induced by these antibodies.

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Journal articles on the topic 'Autoimmune Polyendocrine Syndrome type-1 (APS-1)'

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