935 results match your criteria Polyglandular Autoimmune Syndrome Type I


Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II.

BMJ Case Rep 2019 Apr 8;12(4). Epub 2019 Apr 8.

Department of General Medicine, R.G. Kar Medical College and Hospital, Kolkata, India.

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. Read More

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http://dx.doi.org/10.1136/bcr-2018-228490DOI Listing
April 2019
1 Read

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Front Immunol 2019 21;10:412. Epub 2019 Mar 21.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437310PMC
March 2019
2 Reads

Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes.

Front Pediatr 2019 26;7:51. Epub 2019 Feb 26.

Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis. Read More

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https://www.frontiersin.org/article/10.3389/fped.2019.00051/
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http://dx.doi.org/10.3389/fped.2019.00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399394PMC
February 2019
11 Reads

[Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease. Report of one case].

Rev Med Chil 2018 Dec;146(12):1486-1492

Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Read More

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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.4067/s0034-98872018001201486DOI Listing
December 2018
9 Reads
0.373 Impact Factor

Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.

BMJ Case Rep 2019 Feb 26;12(2). Epub 2019 Feb 26.

Department of Internal Medicine, Monmouth Medical Center, Long Branch, New Jersey, USA.

A 24-year-old man with no significant medical history presented to the medical clinic with vomiting and giddiness for 2 days, loss of appetite for 1 month and progressive fatigability for the preceding 4 months. On examination, he was found to be hypotensive and was admitted to the hospital for work-up. Considering his abnormal labs and physical findings, he was worked up and was diagnosed with primary adrenal insufficiency. Read More

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http://dx.doi.org/10.1136/bcr-2018-227187DOI Listing
February 2019
5 Reads

Autoimmune Regulator (AIRE) is required in female mice for optimal embryonic development and implantation1.

Biol Reprod 2019 Feb 16. Epub 2019 Feb 16.

Dept. Pathobiology & Diagnostic Investigation, and.

Autoimmune Regulator (AIRE) regulates central immune tolerance by inducing expression of tissue-restricted antigens in thymic medullary epithelial cells, thereby ensuring elimination of autoreactive T cells. Aire mutations in humans and targeted Aire deletion in mice results in multi-organ autoimmune disease, known in humans as Autoimmune Polyglandular Syndrome Type 1 (APS-1). APS-1 is characterized by presence of adrenal insufficiency, chronic mucosal candidiasis, and/or hypoparathyroidism. Read More

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https://academic.oup.com/biolreprod/advance-article/doi/10.1
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http://dx.doi.org/10.1093/biolre/ioz023DOI Listing
February 2019
8 Reads

The association between the development of autoimmune polyglandular syndrome in adults and polymorphism of HLA class II genes and the predisposition to the development of chronic adrenal insufficiency in the context of these syndromes.

Ter Arkh 2018 Nov;90(10):23-29

National Medical Research Center of Endocrinology, Ministry of Health of Russia, Moscow, Russia.

Aim: To consider association of chronic adrenal insufficiency in patients with APS of adults with polymorphism of class II HLA genes, -CTLA-4 and PTPN-22.

Materials And Methods: The case-control study involved 78 patients with APS 2, 3, 4 types and 109 healthy subjects). Alleles of the HLA class II genes, CTLA-4 and PTPN-22 were identified by the multiprimer allele-specific PCR method. Read More

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http://dx.doi.org/10.26442/terarkh2018901023-29DOI Listing
November 2018
3 Reads

Polyglandular syndrome type 2 in a Mexican family and its association with human leukocyte antigen.

Clin Case Rep 2019 Jan 13;7(1):79-82. Epub 2018 Nov 13.

Genetics Department Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Ciudad de México Mexico.

The evaluation of first-degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family. Read More

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http://dx.doi.org/10.1002/ccr3.1919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332779PMC
January 2019
3 Reads

Diabetes mellitus and thyroid diseases.

Authors:
Masahiro Nishi

Diabetol Int 2018 May 9;9(2):108-112. Epub 2018 Mar 9.

Division of Clinical Nutrition and Metabolism, Wakayama Medical University, 811-1 Kimiidera, Wakayama, Wakayama 641-8509 Japan.

Both diabetes mellitus and thyroid diseases are very common in the fields of endocrinology and metabolism. Coexistence of diabetes mellitus and thyroid diseases are frequently experienced. However, higher prevalence of thyroid dysfunction in both type 1 and type 2 diabetes compared with non-diabetics have been reported. Read More

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http://dx.doi.org/10.1007/s13340-018-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224947PMC
May 2018
11 Reads

HLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.

J Clin Endocrinol Metab 2019 Jun;104(6):1907-1916

Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Frankfurt, Germany.

Context: Autoimmune endocrinopathies result from environmental triggers on the genetic background of risk alleles, especially HLA-DR and HLA-DQ with alanine (Ala) in HLA-DQB1 position 57 (Ala57), whereas amino acid Asp57 is protective.

Objectives: Differentiate the effects of HLA-DQB1 amino acid variants at position 57 in adult patients with isolated endocrinopathies and autoimmune polyglandular syndrome type 2 (APS-2) compared with healthy controls in relation to gender.

Setting: University Hospital Frankfurt, Frankfurt, Germany. Read More

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http://dx.doi.org/10.1210/jc.2018-01621DOI Listing
June 2019
4 Reads

Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.

J Pediatr 2018 12;203:391-399.e1

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Objective: To determine whether multiple daily injections of parathyroid hormone (PTH) 1-34 are safe and effective as long-term therapy for children with hypoparathyroidism.

Study Design: Linear growth, bone accrual, renal function, and mineral homeostasis were studied in a long-term observational study of PTH 1-34 injection therapy in 14 children.

Methods: Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298875PMC
December 2018
22 Reads

Induction of remission in autoimmune polyglandular syndrome type three (APS III): An old drug with new perspectives.

Clin Case Rep 2018 Nov 2;6(11):2178-2184. Epub 2018 Oct 2.

Internal Medicine Department, Faculty of Medicine Alexandria University Alexandria Egypt.

The autoimmune polyglandular syndrome is a sequential chain of autoimmune events. Whenever diagnosed, the clinician's target should be induction of remission and if possible hindering its progression especially if associated with refractory vitiligo, resistant Grave's, or unexplained hyperglycemia in T1DM. Azathioprine could be used for induction of remission in autoimmune polyglandular syndrome type three especially with vitiligo and autoimmune thyroiditis. Read More

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http://dx.doi.org/10.1002/ccr3.1827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230650PMC
November 2018
25 Reads

Polyglandular endocrine emergency: lessons from a patient, which a book cannot teach.

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK.

A 30-year-old woman with polyglandular autoimmune type 2 syndrome was found collapsed at home with a cardiac arrest, which required direct current cardioversion. On admission, she was hypothermic, hypotensive and bradycardic. Initial biochemical investigations were consistent with a pre-renal acute kidney injury, metabolic acidosis and a possible sepsis. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22650
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http://dx.doi.org/10.1136/bcr-2018-226503DOI Listing
November 2018
26 Reads

Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome.

BMJ Case Rep 2018 Oct 27;2018. Epub 2018 Oct 27.

Department of Dermatology, Kawasaki Medical School, Kurashiki, Okayama, Japan.

We experienced a 6-year-old case of drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) with subsequent development autoimmune thyroiditis (Hashimoto's thyroiditis), type 1 diabetes with antithyroglobulin, thyroid peroxidase, insulinoma-associated antigen and anti-insulin antibodies at 4 months, alopecia at 7 months, vitiligo, uveitis due to Vogt-Koyanagi-Harada disease at 8 months after clinical resolution of the DiHS/DRESS. He was diagnosed as type III polyglandular autoimmune syndrome (PASIII) after DiHS/DRESS. Prompted by this case, we sought to determine which triggering factors were responsible for later development of PASIII in previously published cases with autoimmune sequelae. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22552
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http://dx.doi.org/10.1136/bcr-2018-225528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214396PMC
October 2018
12 Reads

Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor.

Clin Endocrinol (Oxf) 2019 Jan 14;90(1):214-221. Epub 2018 Nov 14.

Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

Context: Activating antibodies directed at the extracellular calcium-sensing receptor (CaSR) have been described in autoimmune hypoparathyroidism in the setting of isolated hypoparathyroidism or autoimmune polyglandular syndrome type 1.

Materials And Methods: A 34-year-old female presented with hypocalcaemia (6.0 mg/dL) and hypomagnesaemia (1. Read More

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http://dx.doi.org/10.1111/cen.13886DOI Listing
January 2019
5 Reads

The Role of Autoimmune Regulator (AIRE) in Peripheral Tolerance.

J Immunol Res 2018 4;2018:3930750. Epub 2018 Sep 4.

Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun 130021, China.

Autoimmune regulator (AIRE), whose gene mutation is considered to be a causative factor of autoimmune polyglandular syndrome type 1 (APS1), is an important transcriptional regulator. Studies on the role of AIRE in the central immune system have demonstrated that AIRE can eliminate autoreactive T cells by regulating the expression of a series of tissue specific antigens promiscuously in medullary thymic epithelial cells (mTECs) and induce regulatory T cell (Treg) production to maintain central immune tolerance. However, the related research of AIRE in peripheral tolerance is few. Read More

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http://dx.doi.org/10.1155/2018/3930750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142728PMC
December 2018
5 Reads

Anti-Saccharomyces Cerevisiae as Unusual Antibody in Autoimmune Polyglandular Syndrome Type III: A Case Report.

Endocr Metab Immune Disord Drug Targets 2019 ;19(1):90-94

Department of Neurology, Gozde Akademi Hospital Malatya, Ankara asfalti 6. Km No:219, 44110 Yesilyurt/ Malatya, Turkey.

Backgraund and Objective: Anti-Saccharomyces Cerevisiae Antibodies (ASCA) that are considered to reflect immune response against increased intestinal permeability due to mucosal damage are among the serological markers of Crohn's Disease.

Methods: This microbial seromarker was recently shown to be elevated in several autoimmune disorders such as celiac disease, autoimmune liver diseases, type 1 diabetes, and Graves' disease. Despite that fact, ASCA seropositivity in Autoimmune Polyglandular Syndrome (APS) has never been reported before. Read More

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http://www.eurekaselect.com/164747/article
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http://dx.doi.org/10.2174/1871530318666180817143536DOI Listing
January 2019
24 Reads

Improved Cardiovascular and Cardiometabolic Risk in Patients With Type 1 Diabetes and Autoimmune Polyglandular Syndrome Switched From Glargine to Degludec Due to Hypoglycaemic Variability.

Front Endocrinol (Lausanne) 2018 26;9:428. Epub 2018 Jul 26.

Biomedical Department of Internal and Specialist Medicine, Section of Diabetes, Endocrinology and Metabolism, University of Palermo, Palermo, Italy.

Cardiovascular disease is a frequent complication of type 1 diabetes (T1D). We evaluated the effectiveness of switching from glargine to degludec in reducing the cardiovascular risk factors, the Framingham risk score (FRS) and visceral adiposity index (VAI) in patients with T1D and autoimmune polyglandular syndrome (APS). We selected 66 T1D outpatients who had been on stable treatment with glargine for at least 5 years. Read More

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http://dx.doi.org/10.3389/fendo.2018.00428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070612PMC
July 2018
10 Reads

Response to "autoimmune polyglandular syndrome type 2 with hypophysitis might be the underlying cause".

QJM 2018 Jul 31. Epub 2018 Jul 31.

Post Graduate Institute of Medical Education and Research, Endocrinology.

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http://dx.doi.org/10.1093/qjmed/hcy159DOI Listing
July 2018
21 Reads

Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant.

Gene 2018 Oct 26;674:93-97. Epub 2018 Jun 26.

Department of Paediatrics Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Kispaticeva 12, 10000 Zagreb, Croatia.

This study included 161 patients: 92 patients had type 1 diabetes (T1D) while 69 patients had a combination of T1D and autoimmune thyroiditis, the so-called autoimmune polyglandular syndrome type 3 variant (APS3v). Those patients, as well as 93 controls, were typed for HLA-DRB1 and -DQB1 genes to assess their possible contribution to the development/protection of T1D with/without autoimmune thyroiditis. Both HLA-DRB1*04 and -DRB1*03 frequencies were significantly higher among T1D and APS3v patients than in controls. Read More

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http://dx.doi.org/10.1016/j.gene.2018.06.083DOI Listing
October 2018
19 Reads

Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report.

Rev Bras Ginecol Obstet 2018 Jul 27;40(7):425-429. Epub 2018 Jun 27.

Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.

Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. Read More

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http://dx.doi.org/10.1055/s-0038-1655749DOI Listing
July 2018
11 Reads

Celiac Disease and Glandular Autoimmunity.

Nutrients 2018 Jun 25;10(7). Epub 2018 Jun 25.

Institute for Translational Immunology and Research Center for Immunotherapy (FZI), Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany.

Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley, and rye. Prevalence of celiac disease is increased in patients with mono- and/or polyglandular autoimmunity and their relatives. We have reviewed the current and pertinent literature that addresses the close association between celiac disease and endocrine autoimmunity. Read More

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http://dx.doi.org/10.3390/nu10070814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073228PMC
June 2018
28 Reads

A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome.

BMC Pediatr 2018 06 15;18(1):191. Epub 2018 Jun 15.

Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Background: Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrinsic factor, achlorhydria, hypergastrinemia and carcinoma. It is rare in paediatric cohorts. Read More

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http://dx.doi.org/10.1186/s12887-018-1169-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002972PMC
June 2018
14 Reads

Schmidt’s syndrome: a difficult diagnosis in the Latin American context

Rev Med Inst Mex Seguro Soc 2018 Mar-Apr;56(2):189-193

Facultad de Ciencias de la Salud, Escuela de Medicina, Departamento de Investigación. Lima, Perú

Background: Schmidt’s syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. Read More

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November 2018
26 Reads

Adrenal crisis in a 14-year-old boy 12 years after hematopoietic stem cell transplantation.

Endocrinol Diabetes Metab Case Rep 2018 6;2018. Epub 2018 Jun 6.

Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany.

We report on a boy of Albanian descent with the history of juvenile myelomonocytic leukemia (JMML). JMML was diagnosed at the age of 17 months and treated by hematopoietic stem cell transplantation (HSCT). At the age of 14. Read More

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http://dx.doi.org/10.1530/EDM-18-0034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993059PMC
June 2018
14 Reads

Large granular lymphocytic leukemia complicating autoimmune polyglandular syndrome type 1 in siblings.

Clin Case Rep 2018 May 11;6(5):847-850. Epub 2018 Mar 11.

Department of Medicine Rutgers - Robert Wood Johnson Medical School New Brunswick New Jersey.

Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder, and large granular lymphocytic leukemia (LGLL) may, even more rarely, complicate APS1. LGLL may be subtle in presentation, but it is imperative to recognize LGLL in APS1 promptly, as outcome may otherwise be fatal, as described herein. Read More

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http://dx.doi.org/10.1002/ccr3.1454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930195PMC
May 2018
7 Reads

Unusual case of anti-N-methyl-D-aspartic acid-receptor (NMDA-R) encephalitis and autoimmune polyglandular syndrome (APS).

BMJ Case Rep 2018 May 2;2018. Epub 2018 May 2.

Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland Medical Center, Baltimore, Maryland, USA.

Anti-N-methyl-D-aspartic acid-receptor (NMDA-R) encephalitis is a novel disease discovered within the past 10 years. It is an autoimmune disease (AD) that has been associated with other ADs, such as Graves' disease. However, association with autoimmune polyglandular syndromes (APS) has not been previously described. Read More

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http://dx.doi.org/10.1136/bcr-2018-224821DOI Listing
May 2018
22 Reads

PPCM and type II autoimmune polyglandular syndrome.

Authors:
Oscar M P Jolobe

Am J Emerg Med 2018 Dec 24;36(12):2333. Epub 2018 Apr 24.

Manchester Medical Society, Simon Building, Brunswick Street, Manchester M13 9PL, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07356757183034
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http://dx.doi.org/10.1016/j.ajem.2018.04.053DOI Listing
December 2018
6 Reads

Autoimmune Polyendocrine Syndromes.

N Engl J Med 2018 Mar;378(12):1132-1141

From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).

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http://dx.doi.org/10.1056/NEJMra1713301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007870PMC
March 2018
9 Reads

Twenty Years of AIRE.

Authors:
Roberto Perniola

Front Immunol 2018 12;9:98. Epub 2018 Feb 12.

Department of Pediatrics, Neonatal Intensive Care, Vito Fazzi Regional Hospital, Lecce, Italy.

About two decades ago, cloning of the autoimmune regulator () gene materialized one of the most important actors on the scene of self-tolerance. Thymic transcription of genes encoding tissue-specific antigens (ts-ags) is activated by AIRE protein and embodies the essence of thymic self-representation. Pathogenic AIRE variants cause the autoimmune polyglandular syndrome type 1, which is a rare and complex disease that is gaining attention in research on autoimmunity. Read More

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http://dx.doi.org/10.3389/fimmu.2018.00098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816566PMC
February 2019
7 Reads

Concurrent variant type 3 autoimmune polyglandular syndrome and pulmonary arterial hypertension in a Japanese woman.

Endocr J 2018 Apr 16;65(4):493-498. Epub 2018 Feb 16.

Department of Endocrinology and Metabolism, Dokkyo Medical University, Mibu, Shimotsuga, Tochigi, Japan.

We describe a very rare case of concurrent variant type 3 autoimmune polyglandular syndrome (APS) and pulmonary arterial hypertension (PAH). A previously healthy 65-year-old Japanese woman was referred to our university hospital with a 2-month history of general fatigue and hyperglycemia. Laboratory tests revealed severe hyperglycemia (plasma glucose 543 mg/dL and HbA1c 10. Read More

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http://dx.doi.org/10.1507/endocrj.EJ17-0465DOI Listing
April 2018
24 Reads

PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity.

J Clin Endocrinol Metab 2018 05;103(5):1977-1984

Molecular Thyroid Research Laboratory, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: Single nucleotide polymorphisms (SNPs) of various genes increase susceptibility to monoglandular autoimmunity. Data on autoimmune polyglandular syndromes (APSs) are scarce.

Objective: Evaluate potential associations of eight SNPs with APSs. Read More

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http://dx.doi.org/10.1210/jc.2017-02577DOI Listing
May 2018
12 Reads

Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.

J Med Life 2017 Oct-Dec;10(4):250-253

Département de Médecine Interne, CHRU Strasbourg, France.

Objective: To investigate the association between pernicious anemia and other autoimmune diseases.

Methods: This retrospective and bicentric study was conducted at Reims and Strasbourg University Hospitals and involved 188 patients with pernicious anemia examined between 2000 and 2010 in order to search for other autoimmune diseases and to evaluate the role of pernicious anemia in autoimmune polyglandular syndrome.

Results: A total of 74 patients with a combination of pernicious anemia and other autoimmune diseases were included in the study. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771255PMC
April 2018
10 Reads

[Myasthenia gravis, Graves-Basedow disease and other autoimmune diseases in patient with diabetes type 1 - APS-3 case report, therapeutic complications].

Pediatr Endocrinol Diabetes Metab 2017 ;23(3):159-164

Department of Children's Diabetology , School of Medicine in Katowice, Medical University of Silesia in Katowice.

Diabetes type 1(T1D) is the most frequent form of diabetes in children and young people, which essence is autoimmune destruction of pancreatic B cells islet. Co-occurrence of other autoimmune diseases is observed in children with T1D, the most often are: Hashimoto disease or coeliac disease. We report the case of the patient, who presents coincidence of T1D with other rare autoimmune diseases such as: Graves - Basedow disease, myasthenia gravis, vitiligo and IgA deficiency. Read More

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http://dx.doi.org/10.18544/PEDM-23.03.0088DOI Listing
July 2018
30 Reads

Latent autoimmune diabetes of adulthood: case report.

Clin Diabetes Endocrinol 2017 28;3:11. Epub 2017 Nov 28.

University of North Carolina (UNC) Family Medicine, 590 Manning Drive, CB#7595, Chapel Hill, NC 27514 USA.

Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Read More

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http://dx.doi.org/10.1186/s40842-017-0049-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706424PMC
November 2017
8 Reads

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).

J Autoimmun 2018 03 10;88:114-120. Epub 2017 Nov 10.

National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, 1400 Jackson Street, Denver, CO, 80206, USA. Electronic address:

A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE; however, typical features of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECED) were not seen in the subjects. Rather, early manifestation of autoimmunity appeared to be dependent on additional genetic factors. Read More

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http://dx.doi.org/10.1016/j.jaut.2017.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846191PMC
March 2018
13 Reads

The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1).

Autoimmun Rev 2018 Jan 4;17(1):78-85. Epub 2017 Nov 4.

Division of Rheumatology, Allergy and Clinical Immunology, School of Medicine, University of California, Davis, CA 95616, USA. Electronic address:

Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. Read More

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http://dx.doi.org/10.1016/j.autrev.2017.11.012DOI Listing
January 2018
19 Reads

15-Year old girl with APS type IIIc, 12 months post-thymectomy remission of myasthenia.

Pediatr Endocrinol Diabetes Metab 2017 ;23(1):49-55

Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Poland.

Polyglandular autoimmune syndromes (PAS) is a group of heterogenous conditions characterized by the association of at least two organ-specific autoimmune disorders, concerning both endocrine and non-endocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition (other than Addison's disease) and is divided into four subtypes. We describe a teenage female patient - with the family history of autoimmune diseases, who has simultaneously developed the symptoms of autoimmune thyroid disease with the clinical picture of hyperthyroidism and myasthenia gravis at the age of fifteen. Read More

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http://pediatricendocrinology.pl/?doi=10.18544/PEDM-23.01.00
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http://dx.doi.org/10.18544/PEDM-23.01.0074DOI Listing
June 2018
7 Reads

Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.

J Clin Endocrinol Metab 2018 01;103(1):179-186

Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.

Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of all patients with Addison disease, early identification of these individuals is vital to prevent the potentially lethal complications of APS1.

Objective: To determine whether available serological and genetic markers are valuable screening tools for the identification of APS1 among patients diagnosed with Addison disease. Read More

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http://dx.doi.org/10.1210/jc.2017-01957DOI Listing
January 2018
28 Reads

Cardiac tamponade in a patient with autoimmune polyglandular syndrome type 2.

Endocrinol Diabetes Metab Case Rep 2017 13;2017. Epub 2017 Oct 13.

1st Department of Cardiology, Hellenic Red Cross Hospital, Athens, Greece.

We describe a case of a 40-year-old woman who was admitted to the intensive care unit with a rapid onset of dyspnea and orthopnea. She presented progressive weakness, weight loss and secondary amenorrhea during last year, while intermittent fever was present for the last two months. Initial biochemical evaluation showed anemia, hyponatremia and increased C-reactive protein levels. Read More

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http://dx.doi.org/10.1530/EDM-17-0097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640567PMC
October 2017
14 Reads

A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.

Gynecol Endocrinol 2018 Apr 18;34(4):283-285. Epub 2017 Oct 18.

b First Department of Obstetrics and Gynecology , Semmelweis University , Budapest , Hungary.

Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure. Read More

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http://dx.doi.org/10.1080/09513590.2017.1391775DOI Listing
April 2018
14 Reads

Adrenal crisis and autoimmune polyglandular syndromes.

Proc (Bayl Univ Med Cent) 2017 Oct;30(4):427-428

Department of Internal Medicine (Freeland) and Division of Pulmonary and Critical Care Medicine (Tsai-Nguyen, Pan, Mora), Baylor University Medical Center at Dallas; and the Texas A&M Health Science Center College of Medicine (Lueking).

We report a 67-year-old woman who presented with adrenal crisis as a manifestation of autoimmune polyglandular syndrome 2, a polygenic disorder characterized by concurrent primary adrenal insufficiency and either autoimmune thyroid disease or type 1 diabetes mellitus. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595382PMC
October 2017
7 Reads

A novel data-driven workflow combining literature and electronic health records to estimate comorbidities burden for a specific disease: a case study on autoimmune comorbidities in patients with celiac disease.

BMC Med Inform Decis Mak 2017 Sep 29;17(1):140. Epub 2017 Sep 29.

Georges Pompidou European Hospital (HEGP), AP-HP, Paris, France.

Background: Data collected in EHRs have been widely used to identifying specific conditions; however there is still a need for methods to define comorbidities and sources to identify comorbidities burden. We propose an approach to assess comorbidities burden for a specific disease using the literature and EHR data sources in the case of autoimmune diseases in celiac disease (CD).

Methods: We generated a restricted set of comorbidities using the literature (via the MeSH® co-occurrence file). Read More

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http://dx.doi.org/10.1186/s12911-017-0537-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622531PMC
September 2017
11 Reads

Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4.

Clin Endocrinol (Oxf) 2018 Jan 3;88(1):139-145. Epub 2017 Oct 3.

Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

Objective: The frequency of autoimmunity against the parathyroid glands in patients with polyglandular autoimmunity that is not due to autoimmune polyendocrine syndrome type 1 (APS1) is unclear. To investigate this, this study aimed to determine the prevalence of autoantibodies against parathyroid autoantigens, calcium-sensing receptor (CaSR) and NACHT leucine-rich-repeat protein 5 (NALP5), in a large group of patients with non-APS1 polyendocrine autoimmunity. Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis. Read More

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http://doi.wiley.com/10.1111/cen.13482
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http://dx.doi.org/10.1111/cen.13482DOI Listing
January 2018
19 Reads

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

J Clin Endocrinol Metab 2017 09;102(9):3546-3556

Department of Clinical Science, University of Bergen, Bergen 5020, Norway.

Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.

Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort. Read More

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http://dx.doi.org/10.1210/jc.2017-00139DOI Listing
September 2017
29 Reads

Serum Thyroid Hormone Antibodies Are Frequent in Patients with Polyglandular Autoimmune Syndrome Type 3, Particularly in Those Who Require Thyroxine Treatment.

Front Endocrinol (Lausanne) 2017 28;8:212. Epub 2017 Aug 28.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison's disease and hypoparathyroidism. We evaluated the prevalence and repertoire of thyroid hormones antibodies (THAb) in PAS-3 patients. Using a radioimmunoprecipation technique, we measured THAb (T3IgM, T3IgG, T4IgM, and T4IgG) in 107 PAS-3 patients and 88 controls (patients with AITD without any NTAID). Read More

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http://dx.doi.org/10.3389/fendo.2017.00212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581384PMC
August 2017
16 Reads