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Emmi Naskali, Katja Dettmer, Peter J Oefner, Pedro A B Pereira, Kai Krohn, Petri Auvinen, Annamari Ranki, and Nicolas Kluger

ja Addison Ry, http://www.apeced.org) . Most of these patients have been included in various publications on APECED in Finland ( 1 , 13 ), including our previous work about gastrointestinal autoimmunity ( 9 ). The mean age of the cohort was 39

Open access

Chiara Mele, Maria Teresa Samà, Alessandro Angelo Bisoffi, Marina Caputo, Valentina Bullara, Stefania Mai, Gillian Elisabeth Walker, Flavia Prodam, Paolo Marzullo, Gianluca Aimaretti, and Loredana Pagano

The associative link relating insulin resistance (IR) and adipokines to the occurrence and phenotype of differentiated thyroid cancer (DTC) is unknown. The aim of this study was to evaluate the relationship between IR and adipokines in DTC patients, as compared with carriers of benign thyroid diseases (BTD) and healthy controls. This observational study enrolled 77 subjects phenotyped as DTC (N = 30), BTD (N = 27) and healthy subjects (N = 20). Each subject underwent preoperative analysis of anthropometric parameters, thyroid function and autoimmunity, insulin resistance (HOMA-IR) and levels of unacylated (UAG) and acylated ghrelin (AG), obestatin, leptin and adiponectin. Multivariate regression models were used to test the predictive role of metabolic correlates on thyroid phenotypes and DTC extension. The three groups showed similar age, gender distribution, smoking habit, BMI and thyroid parameters. Obestatin was significantly higher in DTC group compared to BTD (P < 0.05) and control subjects (P < 0.0001). DTC and BTD groups showed higher levels of UAG (P < 0.01) and AG (P < 0.05). Leptin levels were comparable between groups, whereas adiponectin levels were lower in DTC compared to BTD group (P < 0.0001) and controls (P < 0.01). In parallel, HOMA-IR was higher in DTC than BTD (P < 0.05) and control group (P < 0.01). Stepwise multivariable regression analysis showed that obestatin and UAG were independent predictors of DTC (P = 0.01 for both). In an analysis restricted to the DTC group, obestatin levels were associated with the absence of lymph node metastases (P < 0.05). Our results highlight a potential association between metabolic setting, circulating adipokines and thyroid cancer phenotype.

Open access

Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj K Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bharani, Surendra Kumar Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswamy Srinivasan, Sarita Agarwal, and Eesh Bhatia

Objective

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients.

Design

Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996 and 2016, were followed for [median (range)] 4 (0.2–19) years.

Methods

Clinical features, mortality, organ-specific autoantibodies and AIRE gene mutations were studied.

Results

Patients varied widely in their age of presentation [3.5 (0.1–17) years] and number of clinical manifestations [5 (2–11)]. Despite genetic heterogeneity, the frequencies of the major APS1 components (mucocutaneous candidiasis: 96%; hypoparathyroidism: 91%; primary adrenal insufficiency: 55%) were similar to reports in European series. In contrast, primary hypothyroidism (23%) occurred more frequently and at an early age, while kerato-conjunctivitis, urticarial rash and autoimmune hepatitis were uncommon (9% each). Six (26%) patients died at a young age [5.8 (3–23) years] due to septicaemia, hepatic failure and adrenal/hypocalcaemic crisis from non-compliance/unexplained cause. Interferon-α and/or interleukin-22 antibodies were elevated in all 19 patients tested, including an asymptomatic infant. Eleven AIRE mutations were detected, the most common being p.C322fsX372 (haplotype frequency 37%). Four mutations were novel, while six others were previously described in European Caucasians.

Conclusions

Indian APS1 patients exhibited considerable genetic heterogeneity and had highly variable clinical features. While the frequency of major manifestations was similar to that of European Caucasians, other features showed significant differences. A high mortality at a young age was observed.

Open access

Mírian Romitti, Vitor C Fabris, Patricia K Ziegelmann, Ana Luiza Maia, and Poli Mara Spritzer

inflammation and autoimmunity in women with PCOS has been extensively discussed in recent years ( 16 ). Chronic low-grade inflammation might be a relevant connecting link between obesity and metabolic manifestations in PCOS ( 6 , 17 ). After detecting

Open access

Hauke Thomsen, Xinjun Li, Kristina Sundquist, Jan Sundquist, Asta Försti, and Kari Hemminki

, 14 ). It was recently shown that amino acid polymorphisms within HLA class II exon 2 mediate the APS risk and differentiate between thyroid and polyglandular autoimmunity ( 15 ). Association and sequencing studies have identified several low

Open access

A Rouland, J-C Chauvet-Gelinier, A-L Sberna, E Crevisy, P Buffier, T Mouillot, J-M Petit, and B Vergès

be triggered by stress ( 19 , 31 ), we may hypothesize that individuals with Type A personality are more likely to develop auto-immune disorders. This is suggested by our data and it can be speculated that Type A personality and auto-immunity share

Open access

Taís S Assmann, Mariana Recamonde-Mendoza, Bianca M De Souza, and Daisy Crispim

the infiltrating immune system. T1DM development is slow, providing a potentially long window of time in which it is possible to identify and theoretically treat individuals at risk ( 2 , 3 ). The first sign of autoimmunity against beta

Open access

Thabiso R P Mofokeng, Salem A Beshyah, Fazleh Mahomed, Kwazi C Z Ndlovu, and Ian L Ross

), autoimmunity was the major cause across both regions and a predominant cause of PAI in the MENA area compared with SSA. The reported autoimmunity of 20% by the SSA cohort is much lower than was previously found in South Africa, which constituted 50% of the

Open access

Mengxue Yang, Bowen Sun, Jianhui Li, Bo Yang, Jie Xu, Xue Zhou, Jie Yu, Xuan Zhang, Qun Zhang, Shan Zhou, and Xiaohua Sun

intestinal flora play active roles in metabolism, immune development and host defense against pathogens. In addition, these microorganisms participate in intestinal mucosal immunity and autoimmunity, function as key regulators of the immune system, play roles

Open access

Yun Hu, Na Li, Peng Jiang, Liang Cheng, Bo Ding, Xiao-Mei Liu, Ke He, Yun-Qing Zhu, Bing-li Liu, Xin Cao, Hong Zhou, and Xiao-Ming Mao

MC Braverman LE . Thyroglobulin induced lymphocytic thyroiditis in two sublines of BB/Wor rats . Autoimmunity 1991 9 55 – 60 . ( https://doi.org/10.3109/08916939108997124 ) 10.3109/08916939108997124 1669847 16 Allen EM Thupari JN