Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: AIRE Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies

2010 ◽  
Vol 74 (4) ◽  
pp. 275-284 ◽  
Author(s):  
E. Proust-Lemoine ◽  
P. Saugier-Véber ◽  
D. Lefranc ◽  
S. Dubucquoi ◽  
A. Ryndak ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome ◽  
North Western ◽  
I Gene

scholarly journals Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ya-Bing Wang ◽  
Ou Wang ◽  
Min Nie ◽  
Yan Jiang ◽  
Mei Li ◽  
...  
Keyword(s):  
Case Series ◽  
Pure Red Cell Aplasia ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Myeloproliferative Disease ◽  
College Hospital ◽  
Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Results In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1. Conclusion We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.

scholarly journals Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jing Ruan ◽  
Xuan Wang ◽  
Xianyong Jiang ◽  
Miao Chen
Keyword(s):  
Lymphocytic Leukaemia ◽  
Pure Red Cell Aplasia ◽  
Chronic Diarrhoea ◽  
Syndrome Type ◽  
Red Cell ◽  
Recurrent Pneumonia ◽  
Red Cell Aplasia ◽  
Autoimmune Polyendocrine Syndrome ◽  
Immunological Mechanisms

Abstract Background Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. Previous cases were reviewed, and possible mechanisms are discussed. Case presentation A 31-year-old female presented with anaemia and was diagnosed with PRCA in our centre. She also had hypoparathyroidism for 24 years, premature ovarian failure for 10 years, osteoporosis for 5 years, recurrent pneumonia with bronchiectasis for 4 years and chronic diarrhoea for 1 year. Boosted whole-exome analysis showed AIRE heterozygous mutations, confirming the diagnosis as APS1. LGLL was diagnosed during follow-up. The PRCA responded well to glucocorticoid. treatment Conclusion AIRE is causally related to the development of LGLL and consequent PRCA, which may be due to some immunological mechanisms.

scholarly journals Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections

2021 ◽  
Vol 231 ◽  
pp. 108851
Author(s):  
Iivo Hetemäki ◽  
Saila Laakso ◽  
Hannamari Välimaa ◽  
Iivari Kleino ◽  
Eliisa Kekäläinen ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome ◽  
Increased Susceptibility

scholarly journals A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrine Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Timely Treatment

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.

Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1

The Lancet ◽  
1999 ◽  
Vol 354 (9178) ◽  
pp. 568 ◽  
Author(s):  
Olov Ekwall ◽  
Klas Sjöberg ◽  
Rita Mirakian ◽  
Fredrik Rorsman ◽  
Olle Kämpe
Keyword(s):  
Tryptophan Hydroxylase ◽  
Intestinal Disease ◽  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome

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

Autoimmunity ◽  
2017 ◽  
Vol 50 (4) ◽  
pp. 223-231 ◽  
Author(s):  
Casey J. A. Smith-Anttila ◽  
Sophie Bensing ◽  
Mohammad Alimohammadi ◽  
Frida Dalin ◽  
Mikael Oscarson ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Converting Enzyme ◽  
Autoimmune Polyendocrine Syndrome ◽  
Endothelin Converting Enzyme

scholarly journals A COVID-19 pneumonia case report of autoimmune polyendocrine syndrome type 1 in Lombardy, Italy: letter to the editor

2020 ◽  
Vol 43 (8) ◽  
pp. 1175-1177 ◽  
Author(s):  
G. Beccuti ◽  
L. Ghizzoni ◽  
V. Cambria ◽  
V. Codullo ◽  
P. Sacchi ◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Pneumonia Case ◽  
Letter To The Editor ◽  
Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

2008 ◽  
Vol 358 (10) ◽  
pp. 1018-1028 ◽  
Author(s):  
Mohammad Alimohammadi ◽  
Peyman Björklund ◽  
Åsa Hallgren ◽  
Nora Pöntynen ◽  
Gabor Szinnai ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients

2012 ◽  
Vol 97 (4) ◽  
pp. 1114-1124 ◽  
Author(s):  
Antonella Meloni ◽  
Nick Willcox ◽  
Anthony Meager ◽  
Michela Atzeni ◽  
Anette S. B. Wolff ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome
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