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1.
Rev Med Chil. 2018 Dec;146(12):1486-1492. doi: 10.4067/s0034-98872018001201486.

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

[Article in Spanish]

Author information

1
Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
2
Departamento de Anatomía Patológica, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
3
Servicio de Anatomía Patológica, Hospital Naval A. Nef., Viña del Mar, Chile.
4
Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

Abstract

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. Pathology confirmed the presence of a lymphoplasmacytic hypophysitis. She needed a second surgical resection due to mass growth and neuro-ophthalmologic impairment. One year later, systemic lupus erythematosus, arterial hypertension and type 2 diabetes mellitus were diagnosed. Two years later, due to back pain, constipation and renal failure, retroperitoneal fibrosis was found, satisfactorily treated with glucocorticoids and colchicine. Hence, this clinical vignette shows the coexistence of autoimmune polyglandular syndrome with retroperitoneal fibrosis and lymphoplasmacytic hypophysitis. Tissue analysis showed the presence of IgG4 producing plasma cells in the pituitary and retroperitoneum, which constitute a basis for the diagnosis of IgG4 related disease.

PMID:
30848754
DOI:
10.4067/s0034-98872018001201486
[Indexed for MEDLINE]
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2.
Orv Hetil. 2018 Dec;159(49):2065-2072. doi: 10.1556/650.2018.31122.

[Endocrine complications in primary immunodeficiency diseases].

[Article in Hungarian; Abstract available in Hungarian from the publisher]

Author information

1
I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53., 1083.

Abstract

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. Most of the endocrine dysfunctions are caused mainly by immune dysregulation and autoimmunity like in APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) and IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. In these disorders, an immunologically mediated destructive process by autoreactive T cells damages multiple endocrine organs like the thyroid, parathyroid, adrenal cortex and endocrine pancreas. In some other forms of immunodeficiencies, like Di George syndrome, endocrine disturbances are mainly caused by the underlying genetic disorders but autoimmunity may also take part in the process. The aim of this paper is to give an overview of the different forms of endocrine disturbances and their pathological background in APECED and IPEX syndromes, Di George syndrome and ataxia telangiectasia. Orv Hetil. 2018; 159(49): 2065-2072.

KEYWORDS:

APECED syndrome; APECED-szindróma; Di George syndrome; Di George-szindróma; IPEX syndrome; IPEX-szindróma; endocrine complication; endokrin szövődmény; primary immunodeficiency disease; primer immundeficientia

PMID:
30525884
DOI:
10.1556/650.2018.31122
[Indexed for MEDLINE]
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3.
J Pediatr. 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010.

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

Author information

1
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD. Electronic address: winerk@mail.nih.gov.
2
Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA.
3
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
4
National Institutes of Health Clinical Center, Radiology and Imaging Sciences, Bethesda, MD.
5
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

Abstract

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). Mean daily PTH 1-34 dose was 0.75 ± 0.15 µg/kg/day. Treatment duration was 6.9 ± 3.1 years (range 1.5-10 years). Patients were evaluated semiannually at the National Institutes of Health Clinical Center.

RESULTS:

Mean height velocity and lumbar spine, whole body, and femoral neck bone accretion velocities were normal throughout the study. In the first 2 years, distal one-third radius bone accrual velocity was reduced compared with normal children (P < .003). Serum alkaline phosphatase correlated with PTH 1-34 dose (P < .006) and remained normal (235.3 ± 104.8 [SD] U/L, N: 51-332 U/L). Mean serum and 24-hour urine calcium levels were 2.05 ± 0.11 mmol/L (N: 2.05-2.5 mmol/L) and 6.93 ± 1.3 mmol/24 hour (N: 1.25-7.5 mmol/24 hour), respectively-with fewer high urine calcium levels vs baseline during calcitriol and calcium treatment (P < .001). Nephrocalcinosis progressed in 5 of 12 subjects who had repeated renal imaging although renal function remained normal.

CONCLUSIONS:

Twice-daily or thrice-daily subcutaneous PTH 1-34 injections provided safe and effective replacement therapy for up to 10 years in children with hypoparathyroidism because of autoimmune polyglandular syndrome type 1 or calcium receptor mutation.

KEYWORDS:

ADH; APECED; APS-1; PTH 1-34; Vitamin D; autosomal dominant hypocalcemia; calcium receptor; hypocalcemia; hypomagnesemia; teriparatide

PMID:
30470382
PMCID:
PMC6298875
[Available on 2019-12-01]
DOI:
10.1016/j.jpeds.2018.08.010
[Indexed for MEDLINE]
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4.
BMJ Case Rep. 2018 Nov 8;2018. pii: bcr-2018-226503. doi: 10.1136/bcr-2018-226503.

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

Author information

1
Diabetes and Endocrinology, Cardiff University, Cardiff, UK.
2
Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK.

Abstract

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. She had significantly elevated thyroid-stimulating hormone levels on admission with the clinical profile consistent with dual Addisonian and myxoedema crisis. She received intravenous liothyronine and hydrocortisone along with supportive therapy. Echo showed severe left ventricular impairment with apical ballooning although coronary angiogram disclosed nothing abnormal. She made a gradual recovery and was discharged home after 2 weeks. She was diagnosed to have primary autoimmune hypothyroidism, Addison's diseaseand type 1 diabetes and coeliac disease in October 2006, July 2007, May 2010 and September 2016, respectively. Her inability to stick to gluten-free diet at her workplace was considered a significant contributory factor for out-of-hospital cardiac arrest.

KEYWORDS:

adrenal disorders; arrhythmias; endocrine system; resuscitation; thyroid disease

PMID:
30413457
DOI:
10.1136/bcr-2018-226503
[Indexed for MEDLINE]
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5.
BMJ Case Rep. 2018 Oct 27;2018. pii: bcr-2018-225528. doi: 10.1136/bcr-2018-225528.

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.

Author information

1
Dermatology, Onomichi General Hospital, Onomichi, Hiroshima, Japan.
2
Kawasaki Medical School, Kurashiki, Okayama, Japan.
3
Department of Dermatology, Kyorin University School of Medicine, Tokyo, Japan.
4
Department of Dermatology, Kawasaki Medical School, Kurashiki, Okayama, Japan.

Abstract

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. In the literature review, five patients with DIHS/DRESS were found to develop autoimmune sequelae consistent with PASIII. All cases with PASIII were much younger than those without them. Four out of the five patients were treated with intravenous immunoglobulin or pulsed prednisolone in the acute stage, although effective in short-term outcomes.

KEYWORDS:

dermatology; skin; therapeutic indications

PMID:
30368475
PMCID:
PMC6214396
DOI:
10.1136/bcr-2018-225528
[Indexed for MEDLINE]
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6.
J Immunol Res. 2018 Sep 4;2018:3930750. doi: 10.1155/2018/3930750. eCollection 2018.

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

Author information

1
Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun 130021, China.

Abstract

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. In order to understand the current research progress on AIRE in peripheral tolerance, this review mainly focuses on the expression and distribution of AIRE in peripheral tissues and organs, and the role of AIRE in peripheral immune tolerance such as regulating Toll-like receptor (TLR) expression and the maturation status of antigen presenting cells (APCs), inducing T cell tolerance and differentiation. This review will show us that AIRE also plays an indispensable role in the periphery.

PMID:
30255105
PMCID:
PMC6142728
DOI:
10.1155/2018/3930750
[Indexed for MEDLINE]
Free PMC Article
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7.
Indian Pediatr. 2018 Jun 15;55(6):527-528.

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

Author information

1
Department of Pediatrics, Bangalore Baptist Hospital Bellary Road, Hebbal, Bengaluru, Karnataka, India. drrachelranitha@gmail.com.
2
Department of Radiology, Bangalore Baptist Hospital Bellary Road, Hebbal, Bengaluru, Karnataka, India.
PMID:
29978826
[Indexed for MEDLINE]
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8.
Gene. 2018 Oct 20;674:93-97. doi: 10.1016/j.gene.2018.06.083. Epub 2018 Jun 26.

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

Author information

1
Tissue Typing Centre, Department of Transfusion Medicine and Transplantation Biology, Clinical Hospital Centre Zagreb, Kispaticeva 12, 10000 Zagreb, Croatia. Electronic address: zgrubic@kbc-zagreb.hr.
2
Department of Paediatrics Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Kispaticeva 12, 10000 Zagreb, Croatia.
3
Tissue Typing Centre, Department of Transfusion Medicine and Transplantation Biology, Clinical Hospital Centre Zagreb, Kispaticeva 12, 10000 Zagreb, Croatia.
4
Vuk Vrhovac Clinic for Diabetes, Endocrinology and Metabolic Diseases, University Hospital Merkur, School of Medicine, University of Zagreb, Croatia.

Abstract

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. The frequencies of HLA-DRB1*11 and -DRB1*15 were lower among T1D patients, while HLA-DRB1*07 and -DRB1*11 occurred significantly less frequently among APS3v patients in comparison to controls. HLA-DQB1*03:01 and -DQB1*03:02 were associated with a higher risk of developing T1D and APS3v; HLA-DQB1*02 was significantly more present among APS3v patients while HLA-DQB1*03:03 was observed with a significantly lower frequency only among T1D patients. HLA-DRB1*03~DQB1*02 and HLA-DRB1*04~DQB1*03:02 were associated with both diseases. The higher frequency of HLA-DRB1*03/DRB1*03 among APS3v patients was the only significant difference in genotype frequency when compared to T1D patients, while high risk (HLA-DRB1*03/DRB1*04) and medium risk genotypes for T1D (HLA-DRB1*04/DRB1*04) occurred with similar frequencies in both patient groups. Although some of the results point toward shared genetic susceptibility of T1D and APS3v, observed differences in both susceptible/protective HLA profiles indicate the necessity of further studies in order to elucidate the pathogenesis of these diseases.

KEYWORDS:

Autoimmune polyglandular syndrome type 3 variant (APS3v); Human Leukocyte Antigens (HLA); Type 1 diabetes (T1D)

PMID:
29958949
DOI:
10.1016/j.gene.2018.06.083
[Indexed for MEDLINE]
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9.
Nutrients. 2018 Jun 25;10(7). pii: E814. doi: 10.3390/nu10070814.

Celiac Disease and Glandular Autoimmunity.

Author information

1
Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany. george.kahaly@unimedizin-mainz.de.
2
Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany. Lara.Frommer@unimedizin-mainz.de.
3
Institute for Translational Immunology and Research Center for Immunotherapy (FZI), Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany. Detlef.Schuppan@unimedizin-mainz.de.
4
Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA. Detlef.Schuppan@unimedizin-mainz.de.

Abstract

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. The close relationship between celiac disease and glandular autoimmunity can be largely explained by sharing of a common genetic background. Further, between 10 and 30% of patients with celiac disease are thyroid and/or type 1 diabetes antibody positive, while around 5⁻7% of patients with autoimmune thyroid disease, type 1 diabetes, and/or polyglandular autoimmunity are IgA anti-tissue transglutaminase antibody positive. While a gluten free diet does not reverse glandular autoimmunity, its early institution may delay or even prevent its first manifestation. In conclusion, this brief review highlighting the close association between celiac disease and both monoglandular and polyglandular autoimmunity, aims to underline the need for prospective studies to establish whether an early diagnosis of celiac disease and a prompt gluten-free diet may positively impact the evolution and manifestation of glandular autoimmunity.

KEYWORDS:

autoimmune thyroid disease; celiac disease; glandular autoimmunity; polyglandular autoimmune syndrome; type 1 diabetes

PMID:
29941778
PMCID:
PMC6073228
DOI:
10.3390/nu10070814
[Indexed for MEDLINE]
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10.
BMC Pediatr. 2018 Jun 15;18(1):191. doi: 10.1186/s12887-018-1169-9.

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

Author information

1
Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
2
Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. hzcjie@zju.edu.cn.

Abstract

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.

CASE PRESENTATION:

We present the case of a boy with metaplastic atrophic gastritis in whom immune dysregulation, polyendocrinopathy, enteropathy, X-linked(IPEX) syndrome was confirmed by FOXP3 gene mutation. The patient was referred to the hospital at the age of 3 years with recurrent emesis, diarrhoea and malnutrition. His elder brother died at 9 years of age from acute respiratory distress syndrome and renal tubular acidosis. The patient was allergic to cow milk formula and noodles. Oesophagegastroduodenoscopy revealed redness, erosion and edema throughout the stomach; whitish granules in the duodenal bulb; and edema in the second part of the duodenum. Biopsies showed extensive villous atrophy and goblet cell depletion in the duodenum. He was diagnosed with type-1 diabetes mellitus (T1DM) during the treatment of methylprednisolone. Serum antibodies against glutamic acid decarboxylase and pancreatic islets were detected. The patient's FOXP3 gene was sequenced; this identified that the patient was hemizygous for a pathogenic variant [NM_014009.3:c.748_750del (p.Lys250del)].

CONCLUSION:

Metaplastic atrophic gastritis is rarely reported in patients with IPEX. Clinical gastroenterologists should be aware of IPEX syndrome when facing the complex syndromes of metaplastic atrophic gastritis and endocrinopathy.

KEYWORDS:

Ciliated cell; Enteropathy; Forkhead box protein 3; Gastric atrophic metaplasia; Immune dysregulation; Polyendocrinopathy; X-linked (IPEX) syndrome

PMID:
29907148
PMCID:
PMC6002972
DOI:
10.1186/s12887-018-1169-9
[Indexed for MEDLINE]
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11.
Rev Med Inst Mex Seguro Soc. 2018 Mar-Apr;56(2):189-193.

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

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Facultad de Ciencias de la Salud, Escuela de Medicina, Departamento de Investigación. Lima, Perú clau.barreda.v@gmail.com

Abstract

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. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The aim of this paper is to describe a case of Schmidt’s syndrome in the peruvian context and to analyze the difficulties in the diagnosis.

Clinical case:

We present the case of a 43-year-old woman that presents to the emergency room with headache, nausea, vomits and a “syncope episode”. The patient had a history of secondary amenorrhea, Addison disease, hypothyroidism, osteoporosis and diabetes mellitus type 2. Physical exam showed hyperpigmentation, hypotension and bradycardia. Lab exams demonstrated leukocytosis, hyponatremia, hyperglycemia, and compensated metabolic alkalosis. The emergency management consisted on rehydration, corticoids and insulin. During the hospital stance, exams included follicle stimulation hormone increasement and vaginal echography determined uterine hypoplasia. The patient was discharged one month later with Schmidt’s syndrome, based on autoimmune thyroiditis, Addison’s disease and hypergonadotrophic hypogonadism. In a two week later control, the patient was asymptomatic with levothyroxine, fluodrocortisone, estradiol and insulin treatment.

Conclusions:

In our context, Schmidt’s syndrome is a very rare disease, which leads to a late diagnosis and difficult management.

KEYWORDS:

Polyendocrinopathies, Autoimmune; Addison Disease; Adrenal Gland Diseases; Hypothyroidism

PMID:
29906034
[Indexed for MEDLINE]
12.
BMJ Case Rep. 2018 May 2;2018. pii: bcr-2018-224821. doi: 10.1136/bcr-2018-224821.

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

Author information

1
Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland Medical Center, Baltimore, Maryland, USA.
2
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland Medical Center, Baltimore, Maryland, USA.

Abstract

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. A 58-year-old woman presented with altered mental status and an 8-month history of weight loss, apathy and somnolence. Laboratory evaluation confirmed Graves' disease with thyrotoxicosis and type 1 diabetes mellitus. Despite treatment, she continued to have a fluctuating mental status. Further diagnostic evaluation included an abdominal MRI that showed a cystic lobular left adnexal mass. Serum anti-NMDA-R antibodies were positive, raising concern for NMDA-R encephalitis. Bilateral salpingo-oophorectomy was performed, with pathology consistent with cystadenofibroma. She had a favourable recovery with marked clinical improvement. Anti-NMDA-R antibodies were negative 2 months following surgery. The concomitant occurrence of APS and anti-NMDA-R encephalitis suggests a shared mechanism of autoimmune pathophysiology.

KEYWORDS:

diabetes; thyroid disease

PMID:
29724875
DOI:
10.1136/bcr-2018-224821
[Indexed for MEDLINE]
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13.
Zhonghua Nei Ke Za Zhi. 2018 Apr 1;57(4):309-312. doi: 10.3760/cma.j.issn.0578-1426.2018.04.018.

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

[Article in Chinese; Abstract available in Chinese from the publisher]

Author information

1
Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

Abstract

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. Chronic diarrhea and oliguria alleviated after the administration of corticosteroids.

KEYWORDS:

Acute kidney injury; Autoimmune enteropathy; Diarrhea

[Indexed for MEDLINE]
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14.
N Engl J Med. 2018 Mar 22;378(12):1132-1141. doi: 10.1056/NEJMra1713301.

Autoimmune Polyendocrine Syndromes.

Author information

1
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.).

Comment in

PMID:
29562162
PMCID:
PMC6007870
DOI:
10.1056/NEJMra1713301
[Indexed for MEDLINE]
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15.
Front Immunol. 2018 Feb 12;9:98. doi: 10.3389/fimmu.2018.00098. eCollection 2018.

Twenty Years of AIRE.

Author information

1
Department of Pediatrics, Neonatal Intensive Care, Vito Fazzi Regional Hospital, Lecce, Italy.

Abstract

About two decades ago, cloning of the autoimmune regulator (AIRE) 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. The animal models of disease, although not identically reproducing the human picture, supply fundamental information on mechanisms and extent of AIRE action: thanks to its multidomain structure, AIRE localizes to chromatin enclosing the target genes, binds to histones, and offers an anchorage to multimolecular complexes involved in initiation and post-initiation events of gene transcription. In addition, AIRE enhances mRNA diversity by favoring alternative mRNA splicing. Once synthesized, ts-ags are presented to, and cause deletion of the self-reactive thymocyte clones. However, AIRE function is not restricted to the activation of gene transcription. AIRE would control presentation and transfer of self-antigens for thymic cellular interplay: such mechanism is aimed at increasing the likelihood of engagement of the thymocytes that carry the corresponding T-cell receptors. Another fundamental role of AIRE in promoting self-tolerance is related to the development of thymocyte anergy, as thymic self-representation shapes at the same time the repertoire of regulatory T cells. Finally, AIRE seems to replicate its action in the secondary lymphoid organs, albeit the cell lineage detaining such property has not been fully characterized. Delineation of AIRE functions adds interesting data to the knowledge of the mechanisms of self-tolerance and introduces exciting perspectives of therapeutic interventions against the related diseases.

KEYWORDS:

animal disease models; autoimmune polyendocrinopathies; immune tolerance; thymus gland; transcription factors; type-1 diabetes mellitus

PMID:
29483906
PMCID:
PMC5816566
DOI:
10.3389/fimmu.2018.00098
[Indexed for MEDLINE]
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16.
Endocr J. 2018 Apr 26;65(4):493-498. doi: 10.1507/endocrj.EJ17-0465. Epub 2018 Feb 16.

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

Author information

1
Department of Endocrinology and Metabolism, Dokkyo Medical University, Mibu, Shimotsuga, Tochigi, Japan.

Abstract

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 10.7%) with ketonuria (3+). Glutamic acid decarboxylase (GAD) and IA-2 antibodies were positive, and the serum C peptide level was markedly decreased to 0.2 ng/mL. Accordingly, type 1 diabetes was diagnosed. Hashimoto's thyroiditis was also diagnosed because she had a diffuse goiter and a mild hypothyroidism (TSH 8.20 μU/mL, and FT4 0.80 ng/mL) with positive autoantibodies for thyroid peroxidase and thyroglobulin. There was neither adrenal insufficiency nor hypocalcemia. In addition, chest X ray showed a suspicious PAH by a dilation of both pulmonary arteries, especially right descending artery, and right heart catheterization confirmed the presence of PAH. HLA Class II genotyping revealed DRB1-DQB1*0901-*0303, a common susceptibility haplotype in Japanese patients with type 3 APS or acute-onset type 1 diabetes. The combination of variant type 3 APS and PAH is extremely rare and to the best of knowledge, this is the first case reported in a Japanese patient.

KEYWORDS:

Autoimmune polyglandular syndrome; Hashimoto’s thyroiditis; Pulmonary hypertension; Type 1 diabetes

PMID:
29459556
DOI:
10.1507/endocrj.EJ17-0465
[Indexed for MEDLINE]
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17.
Hematol Oncol. 2018 Apr;36(2):481-488. doi: 10.1002/hon.2494. Epub 2018 Feb 14.

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

Author information

1
Gastroenterology Unit, Department of Medicine, University of Verona and AOUI Borgo Roma, Verona, Italy.
2
Unit of Anatomic Pathology, Department of Molecular Medicine, Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Pavia, Italy.
3
Department of Internal Medicine, Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Pavia, Italy.
4
Department of Nuclear Medicine, Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Pavia, Italy.

Abstract

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. Despite intensive treatment, the patient developed cerebral metastasis and died 9 months later. Our case enhances the concept of enteropathy-associated T-cell lymphoma as a disease that may arise in the setting of enteropathies other than coeliac disease, thus representing a heterogeneous entity. Moreover, our observations support the need of a close follow-up of these patients, coupled with comprehensive characterization of mucosal biopsies.

KEYWORDS:

T-cell lymphoma; autoimmune enteropathy; coeliac disease; enterocyte autoantibodies; histology

PMID:
29446107
DOI:
10.1002/hon.2494
[Indexed for MEDLINE]
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18.
J Clin Endocrinol Metab. 2018 May 1;103(5):1977-1984. doi: 10.1210/jc.2017-02577.

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

Author information

1
Molecular Thyroid Research Laboratory, Johannes Gutenberg University Medical Center, Mainz, Germany.
2
Institute of Legal Medicine, Johannes Gutenberg University Medical Center, Mainz, Germany.
3
Institute of Medical Biostatistics, Epidemiology and Informatics, Johannes Gutenberg University Medical Center, Mainz, Germany.

Abstract

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.

Setting:

Academic referral endocrine clinic.

Patients:

A total of 543 patients with APS and monoglandular autoimmunity and controls.

Intervention:

The SNP protein tyrosine phosphatase nonreceptor type 22 (PTPN22) rs2476601 (+1858); cytotoxic T-lymphocyte‒associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49); vitamin D receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I); tumor necrosis factor α rs1800630 (-863); and interleukin-2 receptor alpha rs10795791 were tested by single-base extension in all subjects.

Results:

The PTPN22 +1858 allele and genotype distribution were markedly different between APS, type 1 diabetes [T1D; odds ratio (OR): 2.67; 95% confidence interval (CI): 1.52 to 4.68; P = 0.001], Graves disease (GD; OR: 1.94; 95% CI: 1.16 to 3.25; P = 0.011), and controls (OR: 3.31, 95% CI: 1.82 to 6.02; P < 0.001). T-allele carriers' risk for APS was increased (OR: 3.76; 95% CI: 1.97 to 7.14; P < 0.001). T-allele frequency was higher among APS than controls (OR: 3.25; 95% CI: 1.82 to 5.82; P < 0.001), T1D (OR: 2.54; 95% CI: 1.48 to 4.36; P = 0.001), or GD (OR: 1.89; 95% CI: 1.15 to 3.11; P = 0.012). The SNP CTLA-4 CT60 G-allele carriers were more frequent in APS (85%) than controls (78%) (OR: 1.55; 95% CI: 0.81 to 2.99). Combined analysis of CTLA-4 AG49 and CT60 revealed OR 4.89; 95% CI: 1.86 to13.59; P = 0.00018 of the genotype combination AG/GG for APS vs controls. VDR polymorphisms Bsm I, Apa I, and Taq I did not, but the haplotypes differed between APS and controls (P = 0.0011).

Conclusions:

PTPN22 and CTLA-4 polymorphisms are associated with APS and differentiate between polyglandular and monoglandular autoimmunity.

PMID:
29409002
DOI:
10.1210/jc.2017-02577
[Indexed for MEDLINE]
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19.
J Med Life. 2017 Oct-Dec;10(4):250-253.

Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.

Author information

1
Department of Internal Medicine, Geriatrics, Therapeutics, CHU Rouen, France.
2
Département de Médecine Interne, CHRU Strasbourg, France.

Abstract

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. Our study revealed the privileged association of pernicious anemia with autoimmune thyroiditis. The association of pernicious anemia and autoimmune thyroiditis are a part of the autoimmune polyglandular syndrome type 3b.

CONCLUSION:

We suggest undertaking a systematic clinical examination and laboratory investigations in search of autoimmune thyroiditis in patient(s) with the diagnosis of pernicious anemia. The association of pernicious anemia and autoimmune thyroiditis is frequent and a part of autoimmune polyglandular 3b.

KEYWORDS:

autoimmune polyglandular syndrome; autoimmune thyroiditis; pernicious anemia

PMID:
29362601
PMCID:
PMC5771255
[Indexed for MEDLINE]
Free PMC Article
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20.
Acta Biomed. 2018 Jan 16;88(4):499-501. doi: 10.23750/abm.v88i4.5117.

The Schmidt Syndrome.

Author information

1
Parma University Hospital. csiniscalchi84@gmail.com.

Abstract

Addison's disease (AD) is a rare endocrine condition related to adrenal insufficiency. Autoimmune adrenalitis is commonly associated with autoimmune diseases. Autoimmune Addison's Disease (AAD) describes Autoimmune Polyendocrine Syndrome (APS) in 60% of patients with an important immunitary pathogenesis imprinting. We describes a case of Autoimmune Polyendocrine Syndrome charachterize by adrenal insufficiency and thyroid disease (Schmidt Syndrome). In this case report, Addison's disease had a slow onset in absence of the typical weight loss. In our considerations this is due to the concomitant hypothyroidism that masked some typical signs and also limited acute presentation.

KEYWORDS:

autoimmune polyendocrine syndrome, autoimmune Addison's disease, Schmidt syndrome

PMID:
29350667
DOI:
10.23750/abm.v88i4.5117
[Indexed for MEDLINE]

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