scholarly journals Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1

2018 ◽  
Vol 9 ◽  
Author(s):  
Linda Humbert ◽  
Marjorie Cornu ◽  
Emmanuelle Proust-Lemoine ◽  
Jagadeesh Bayry ◽  
Jean-Louis Wemeau ◽  
...  
Keyword(s):  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome

Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1

2013 ◽  
Vol 42 ◽  
pp. 1-6 ◽  
Author(s):  
Emma Lindh ◽  
Johan Brännström ◽  
Petra Jones ◽  
Fredrik Wermeling ◽  
Signe Hässler ◽  
...  
Keyword(s):  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Autoimmune hepatitis as the first manifestation of autoimmune polyendocrine syndrome type 1 in a 5-year-old girl

2021 ◽  
Vol 66 (4) ◽  
pp. 101-108
Author(s):  
E. A. Yablokova ◽  
A. M. Rimskaya ◽  
Yu. P. Grintsevich ◽  
A. V. Vitebskaya ◽  
E. V. Borisova ◽  
...  
Keyword(s):  
Autoimmune Hepatitis ◽  
Autoimmune Disorder ◽  
Unknown Etiology ◽  
Compound Heterozygous ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome ◽  
Endocrine Organs

Autoimmune hepatitis is a chronic inflammatory liver disease of unknown etiology; the prevalence of juvenile autoimmune hepatitis is unknown. Autoimmune hepatitis occurs in 10–20% of patients with type 1 autoimmune polyendocrine syndrome, a rare (orphan) disease, which is characterized by a clinical triad in 70–100% of cases: chronic mucocutaneous candidiasis, hypopara thy roidismand adrenal insufficiency, as well as more 25 possible autoimmune endocrine and non-endocrine manifestations.Thisstudy describes a case of a 5-year-old girl with autoimmune hepatitis as the first clinical manifestation of the disease. The symptoms of chronic mucocutaneous candidiasis enabled us to suggest and genetically confirm the diagnosis of autoimmune poly endocrine syndrome type 1 before the lesions of endocrine organs. The girl had nonsense mutations R257 * and p.Q94* of the AIRE gene in a compound heterozygous state. Later, there appeared another autoimmune disorder – common vitiligo.Timelydiagnosisoftype1autoimmunepolyendocrinesyndromeinachildwiththefirstnon-endocrine autoimmune manifestation, initiation of therapy and further medical management made it possible to preventseve recomplications and improve the patient’s quality of life.

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 Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

2010 ◽  
Vol 207 (2) ◽  
pp. 291-297 ◽  
Author(s):  
Anne Puel ◽  
Rainer Döffinger ◽  
Angels Natividad ◽  
Maya Chrabieh ◽  
Gabriela Barcenas-Morales ◽  
...  
Keyword(s):  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome ◽  
Clinical Syndromes ◽  
Macrophage Colony ◽  
Factor Α

Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from autoimmunity to interleukin (IL)-17 cytokines. We found high titers of autoantibodies (auto-Abs) against IL-17A, IL-17F, and/or IL-22 in the sera of all 33 patients tested, as detected by multiplex particle-based flow cytometry. The auto-Abs against IL-17A, IL-17F, and IL-22 were specific in the five patients tested, as shown by Western blotting. The auto-Abs against IL-17A were neutralizing in the only patient tested, as shown by bioassays of IL-17A activity. None of the 37 healthy controls and none of the 103 patients with other autoimmune disorders tested had such auto-Abs. None of the patients with APS-I had auto-Abs against cytokines previously shown to cause other well-defined clinical syndromes in other patients (IL-6, interferon [IFN]-γ, or granulocyte/macrophage colony-stimulating factor) or against other cytokines (IL-1β, IL-10, IL-12, IL-18, IL-21, IL-23, IL-26, IFN-β, tumor necrosis factor [α], or transforming growth factor β). These findings suggest that auto-Abs against IL-17A, IL-17F, and IL-22 may cause CMC in patients with APS-I.

scholarly journals Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
JiaQi Chen ◽  
Ting Lu ◽  
ChenXiao Liu ◽  
Yun Zhao ◽  
AiJie Huang ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Inherited Disease ◽  
Aire Gene ◽  
Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. Case presentation We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene —the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150–45,706,528)*1 on the other. Conclusions This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.

scholarly journals A Case Report on Autoimmune Polyendocrine SyndromeType 1

2014 ◽  
Vol 15 (1) ◽  
pp. 98-101 ◽  
Author(s):  
Md. Yusuf Ali ◽  
H M Rashiduzzaman ◽  
Mahadi Masud ◽  
Md. Abdul Wadud ◽  
Sadia Quadir ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Dental Enamel ◽  
Autosomal Recessive Disorder ◽  
Primary Hypothyroidism ◽  
Chronic Mucocutaneous Candidiasis ◽  
Nail Dystrophy ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome ◽  
Dental Enamel Hypoplasia

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan dysfunction. The major components of APS type 1 are chronic mucocutaneous candidiasis,hypoparathyroidism and Addison’s disease.To establish this syndrome, at least two of these conditions have to be present. We report here one of such case, a 15-year old boy who presented with features of chronic mucocutaneous candidiasis, hypoparathyroidism, primary hypothyroidism,nail dystrophy and dental enamel hypoplasia that were consistent with APS-1.DOI: http://dx.doi.org/10.3329/jom.v15i1.19886 J Medicine 2014; 15: 98-101

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