1,247 results match your criteria Polyglandular Autoimmune Syndrome Type II


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
1 Read

[Endocrine complications in primary immunodeficiency diseases].

Authors:
Zita Halász

Orv Hetil 2018 Dec;159(49):2065-2072

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53., 1083.

Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Read More

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http://dx.doi.org/10.1556/650.2018.31122DOI Listing
December 2018
1 Read

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
10 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
4 Reads

Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A.

Indian Pediatr 2018 06;55(6):527-528

Department of Radiology, Bangalore Baptist Hospital Bellary Road, Hebbal, Bengaluru, Karnataka, India.

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June 2018
7 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
13 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
5 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
20 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
17 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
15 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
5 Reads

[The 462nd case: chronic watery diarrhea and acute kidney injury].

Zhonghua Nei Ke Za Zhi 2018 Apr;57(4):309-312

Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

A 60-year-old man presented with severe watery diarrhea for 2 months complicated with weight loss and acute kidney injury. He did not respond well to antidiarrheal medicines, empirical antibiotics and dietary exclusion of gluten or even complete bowel rest. The final diagnosis of autoimmune enteropathy (AIE) was made based on histopathologic findings of endoscopic biopsy from duodenal mucosa after excluding neoplastic disease, inflammatory bowel disease, and infectious diarrhea, etc. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2018.04.018DOI Listing
April 2018
2 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
3 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 2018
6 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
22 Reads

Intestinal T-cell lymphoma with enteropathy-associated T-cell lymphoma-like features arising in the setting of adult autoimmune enteropathy.

Hematol Oncol 2018 Apr 14;36(2):481-488. Epub 2018 Feb 14.

Department of Internal Medicine, Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Pavia, Italy.

Enteropathy-associated T-cell lymphoma is regarded as a dismal, late complication of coeliac disease, though a single case of T-cell lymphoma with such features arising in the setting of autoimmune enteropathy of the adult has been reported to date. We aim to describe the case of a 41-year-old woman complaining of severe malabsorption syndrome, who was diagnosed with autoimmune enteropathy based on the presence of flat intestinal mucosa unresponsive to any dietary restriction and positivity for enterocyte autoantibodies. Steroid therapy led to a complete recovery of both mucosal and clinical findings over 12 years, when disease relapse was accompanied by the appearance of monoclonal rearrangement of T-cell receptor-γ and peculiar T-cell phenotypic abnormalities, leading to a rapid transition to an overt T-cell lymphoma with features of the enteropathy-associated subtype. Read More

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http://dx.doi.org/10.1002/hon.2494DOI Listing
April 2018
38 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
8 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
8 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
18 Reads

A novel conditional Aire allele enables cell-specific ablation of the immune tolerance regulator Aire.

Eur J Immunol 2018 03 27;48(3):546-548. Epub 2017 Dec 27.

Laboratory of Immunobiology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.

Medullary thymic epithelial cell (mTEC)-restricted expression of autoimmune regulator (Aire) is essential for establishment of immune tolerance. Recently, Aire was also shown to be expressed in cells of hematopietic and reproductive lineages. Thus, the generation of Aire mouse strain enables the investigation of the cell-specific function of Aire. Read More

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http://dx.doi.org/10.1002/eji.201747267DOI Listing
March 2018
6 Reads

IL-22 neutralizing autoantibodies impair fungal clearance in murine oropharyngeal candidiasis model.

Eur J Immunol 2018 03 11;48(3):464-470. Epub 2017 Dec 11.

Department of Molecular Pathology, Institute of Biomedical and Translational Medicine, University of Tartu, Tartu, Estonia.

Protection against mucocutaneous candidiasis depends on the T helper (Th)17 pathway, as gene defects affecting its integrity result in inability to clear Candida albicans infection on body surfaces. Moreover, autoantibodies neutralizing Th17 cytokines have been related to chronic candidiasis in a rare inherited disorder called autoimmune polyendocriopathy candidiasis ectodermal dystrophy (APECED) caused by mutations in autoimmune regulator (AIRE) gene. However, the direct pathogenicity of these autoantibodies has not yet been addressed. Read More

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http://dx.doi.org/10.1002/eji.201747209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844855PMC
March 2018
4 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
17 Reads

Practical Approach to the Flattened Duodenal Biopsy.

Authors:
Thomas C Smyrk

Surg Pathol Clin 2017 Dec 23;10(4):823-839. Epub 2017 Sep 23.

Department of Pathology, Mayo Clinic, Hilton 11, 200 First Street Southwest, Rochester, MN 55902, USA. Electronic address:

Celiac disease features duodenal intraepithelial lymphocytosis with or without villous atrophy. Lymphocytosis without villous atrophy will be proven to represent celiac disease in 10% to 20% of cases. The differential diagnosis is broad: Helicobacter pylori gastritis, NSAID injury and bacterial overgrowth are considerations. Read More

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http://dx.doi.org/10.1016/j.path.2017.07.004DOI Listing
December 2017
7 Reads

Primary Immunoprevention of Epithelial Ovarian Carcinoma by Vaccination against the Extracellular Domain of Anti-Müllerian Hormone Receptor II.

Cancer Prev Res (Phila) 2017 Nov;10(11):612-624

Department of Immunology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

Epithelial ovarian carcinoma (EOC) is the most prevalent form of ovarian cancer in the United States, representing approximately 85% of all cases and causing more deaths than any other gynecologic malignancy. We propose that optimized control of EOC requires the incorporation of a vaccine capable of inducing safe and effective preemptive immunity in cancer-free women. In addition, we hypothesize that ovarian-specific self-proteins that are "retired" from autoimmune-inducing expression levels as ovaries age but are expressed at high levels in emerging EOC may serve as vaccine targets for mediating safe and effective primary immunoprevention. Read More

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http://cancerpreventionresearch.aacrjournals.org/lookup/doi/
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http://dx.doi.org/10.1158/1940-6207.CAPR-17-0154DOI Listing
November 2017
25 Reads

Peculiarities of autoimmune polyglandular syndromes in children and adolescents.

Acta Biomed 2017 10 23;88(3):271-275. Epub 2017 Oct 23.

Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.

Background: no reviews have specifically addressed , to now, whether autoimmune polyglandular syndromes (APSs) may have a peculiar epidemiology and phenotypical expression in pediatric ageObjectives: to review the most recent literature data about the specific epidemiological and clinical peculiarities of APSs in childhood and adolescenceDesign: the main features of the different APSs in pediatric age were compared among them.

Conclusions: 1) Among the different APSs, the one that is most typical of pediatric age is APS-1; 2) APS-1 is not characterized only by the classical triad (chronic moniliasis-hyposurrenalism-hypoparathyroidism) and its clinical spectrum is enlarging over time; 3)APS-2 may have a different epidemiological and clinical expression according to two different nosological classifications. Read More

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http://dx.doi.org/10.23750/abm.v88i3.5898DOI Listing
October 2017
11 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
4 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
26 Reads

Insights into immune tolerance from AIRE deficiency.

Curr Opin Immunol 2017 Dec 21;49:71-78. Epub 2017 Oct 21.

Diabetes Center, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

AIRE is a well-established master regulator of central tolerance. It plays an essential role in driving expression of tissue-specific antigens in the thymus and shaping the development of positively selected T-cells. Humans and mice with compromised or absent AIRE function have markedly variable phenotypes that include a range of autoimmune manifestations. Read More

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http://dx.doi.org/10.1016/j.coi.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705335PMC
December 2017
5 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
9 Reads

Autoimmune enteropathies.

Virchows Arch 2018 Jan 11;472(1):55-66. Epub 2017 Oct 11.

Department of Pathology, Moffitt Cancer Center, Tampa, FL, USA.

Autoimmune enteropathy (AIE) is a rare condition characterized by intractable diarrhea and immune-mediated injury of the intestinal mucosa. As the clinical and histopathologic manifestations of this disease are highly variable, its diagnosis is challenging for both clinicians and pathologists. In fact, the term autoimmune enteropathies is likely more appropriate since the clinicopathologic manifestations are observed in association with a heterogeneous group of disorders. Read More

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http://dx.doi.org/10.1007/s00428-017-2243-7DOI Listing
January 2018
12 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
10 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
16 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
23 Reads

Altered expression of circadian clock genes in polyglandular autoimmune syndrome type III.

Endocrine 2018 01 7;59(1):109-119. Epub 2017 Sep 7.

Department of Biological Chemistry, School of Medicine, National and Kapodistrian University of Athens, Athens, 11527, Greece.

Purpose: Circadian timing system is a highly conserved, ubiquitous molecular "clock" which creates internal circadian rhythmicity. Dysregulation of clock genes expression is associated with various diseases including immune dysregulation. In this study we investigated the circadian pattern of Clock-related genes in patients with polyglandular autoimmune syndrome type III (PAS type III). Read More

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http://dx.doi.org/10.1007/s12020-017-1407-1DOI Listing
January 2018
33 Reads
3.530 Impact Factor

Polyglandular autoimmune syndromes.

J Endocrinol Invest 2018 Jan 17;41(1):91-98. Epub 2017 Aug 17.

Department of Medicine I, Johannes Gutenberg University Medical Center, 55101, Mainz, Germany.

Background: In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated.

Objective: To offer current demographic, clinical, serological and immunogenic data on PAS.

Methods: Review of the pertinent and current literature. Read More

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http://dx.doi.org/10.1007/s40618-017-0740-9DOI Listing
January 2018
5 Reads

Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age.

Ital J Pediatr 2017 Aug 7;43(1):69. Epub 2017 Aug 7.

UOC Pediatria, Department of Human Pathology in Adulthood and Childhood, University of Messina, via Consolare Valeria, 98125, Messina, Italy.

Background: Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the clinical spectrum of APS-3 in childhood and adolescence. Aims of these study were: a) to ascertain how many young patients with apparently isolated Hashimoto's thyroiditis (HT) are at risk of manifesting other autoimmune disorders (ADs) compatible with APS-3; b) to individuate the ADs which most frequently segregate with HT in the context of an APS-3.

Methods: A selected population of 211 young patients with HT and no risk factors for other APSs was investigated, in order to evaluate the prevalence of other ADs apart from HT and to individuate the ADs which most frequently cluster with HT in the context of APS-3. Read More

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http://dx.doi.org/10.1186/s13052-017-0386-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545841PMC
August 2017
10 Reads

Celiac Disease and Other Causes of Duodenitis.

Arch Pathol Lab Med 2018 Jan 31;142(1):35-43. Epub 2017 Jul 31.

From the Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

Context: - Patients who receive an upper gastrointestinal endoscopic examination frequently have biopsies taken from the duodenum. Accurate interpretation of duodenal biopsies is essential for patient care. Celiac disease is a common clinical concern, but pathologists need to be aware of other conditions of the duodenum that mimic celiac disease. Read More

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http://dx.doi.org/10.5858/arpa.2016-0608-RADOI Listing
January 2018
21 Reads

[Severe diarrhoea due to autoimmune enteropathy: Treatment and outcomes].

An Pediatr (Barc) 2018 Jun 27;88(6):350-351. Epub 2017 Jul 27.

Servicio de Gastroenterología Infantil, Hospital Universitario La Paz, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2017.06.009DOI Listing
June 2018
3 Reads

Multiple Endocrine and Neoplastic Diseases After Unsuccessful Treatment of Hepatitis C With Interferon and Ribavirin.

Am J Med Sci 2017 Jul 18;354(1):66. Epub 2016 Oct 18.

Division of Oncology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York.

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http://dx.doi.org/10.1016/j.amjms.2016.10.001DOI Listing
July 2017
19 Reads
1.510 Impact Factor

Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.

Scand J Immunol 2017 Oct;86(4):221-228

Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland.

Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1). The patients also have a functional defect in the FOXP3 regulatory T cell population, but its origin is unclear. Here, we have used T cell receptor sequencing to analyse the clonal relationship of major CD4 T cell subsets in three patients and three healthy controls. Read More

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http://dx.doi.org/10.1111/sji.12586DOI Listing
October 2017
7 Reads

Clinical usefulness of serum antibodies as biomarkers of gastrointestinal and liver diseases.

Dig Liver Dis 2017 Sep 23;49(9):947-956. Epub 2017 Jun 23.

First Department of Internal Medicine, San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.

The progressively growing knowledge of the pathophysiology of a number of immune-mediated gastrointestinal and liver disorders, including autoimmune atrophic gastritis, coeliac disease, autoimmune enteropathy, inflammatory bowel disease, autoimmune hepatitis, primary sclerosing cholangitis, primary biliary cholangitis and autoimmune pancreatitis, together with the improvement of their detection methods have increased the diagnostic power of serum antibodies. In some cases - coeliac disease and autoimmune atrophic gastritis - they have radically changed gastroenterologists' diagnostic ability, while in others - autoimmune hepatitis, inflammatory bowel disease and autoimmune pancreatitis - their diagnostic performance is still inadequate. Of note, serum antibody misuse in clinical practice has raised a number of controversies, which may generate confusion in the diagnostic management of the aforementioned disorders. Read More

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http://dx.doi.org/10.1016/j.dld.2017.06.010DOI Listing
September 2017
27 Reads

Impaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I.

Autoimmunity 2017 Jun 7;50(4):211-222. Epub 2017 Jul 7.

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

Autoimmune polyendocrine syndrome type I (APS-I) is a severe disease caused by mutations in the autoimmune regulator (AIRE) gene. We hypothesized that salivary gland dysfunction could be a possible unexplored component of these patients and here aimed to investigate salivary and lachrymal symptoms in the Norwegian cohort of APS-I patients (N = 41) and the aetiology behind it. Sicca symptoms and possible corresponding underlying factors were assessed by subjective reports combined with objective measures of saliva and tear flow, serological testing, immune fluorescence microscopy, ultrasonography and searching for putative autoantibodies in the salivary glands. Read More

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http://dx.doi.org/10.1080/08916934.2017.1344972DOI Listing
June 2017
32 Reads

[Oral diseases in auto-immune polyendocrine syndrome type 1].

Presse Med 2017 Sep 3;46(9):853-863. Epub 2017 Jul 3.

Polyclinique Aguilera, 21, rue de l'Estagnas, 64200 Biarritz, France.

Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. Read More

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http://dx.doi.org/10.1016/j.lpm.2017.05.029DOI Listing
September 2017
25 Reads

Premature ovarian failure could be an alarming sign of polyglandular autoimmune dysfunction.

Authors:
Aasem Saif M Assem

Endocr Regul 2017 Apr;51(2):114-116

.

A 31-year-old lady, diagnosed to have premature ovarian failure in the gynecology clinic, was referred for endocrine assessment because of an abnormal thyroid function test. Clinical examination revealed hypotension, and fungal skin infection under her atrophic breasts. Thyroid stimulating hormone (TSH) level was very high. Read More

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http://dx.doi.org/10.1515/enr-2017-0011DOI Listing
April 2017
9 Reads

Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.

Autoimmunity 2017 Jun 30;50(4):223-231. Epub 2017 May 30.

a Department of Medical Sciences , Uppsala University , Uppsala , Sweden.

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in up to 7% of all APS1 patients, with immunoreactivity to pituitary tissue frequently reported. Read More

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http://dx.doi.org/10.1080/08916934.2017.1332183DOI Listing
June 2017
45 Reads

A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.

Immunogenetics 2017 10 24;69(10):643-651. Epub 2017 May 24.

Department of Endocrinology, China Three Gorges University & Yichang Central People's Hospital, Yi Ling Road 181, Yichang, 443003, China.

Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. Read More

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http://dx.doi.org/10.1007/s00251-017-0995-5DOI Listing
October 2017
26 Reads

Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report.

BMC Dermatol 2017 05 18;17(1). Epub 2017 May 18.

Department of Dermatology, Johns Hopkins University School of Medicine, 1550 Orleans Street, Koch CRB II, Unit 206, Baltimore, MD, 21231, USA.

Background: Acrodermatitis enteropathica (AE) is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Unlike its inherited counterpart, acquired AE (AAE) is often secondary to underlying pathologic or iatrogenic etiologies that interfere with nutritional absorption, such as inflammatory bowel disease or alcoholism. Read More

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http://dx.doi.org/10.1186/s12895-017-0059-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437591PMC
May 2017
34 Reads

Celiac Disease and Nonceliac Gluten Sensitivity.

Pediatr Clin North Am 2017 06;64(3):563-576

Pediatric Gastroenterology & Nutrition, University of Maryland, 22 South Greene Street, N5W68, Baltimore, MD 21201, USA.

Gluten-related disorders include celiac disease (CD), wheat allergy, and nonceliac gluten sensitivity. CD is an autoimmune enteropathy caused by damage to small intestinal mucosa when gluten is ingested in genetically susceptible individuals. Currently, the only available treatment of CD is gluten-free diet. Read More

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http://dx.doi.org/10.1016/j.pcl.2017.01.013DOI Listing
June 2017
19 Reads