Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood

Wolff, Anette S. B.; Sarkadi, Adrien Katalin; Maródi, László; Kärner, Jaanika; Orlova, Elizaveta; Oftedal, Bergithe E.; Kisand, Kai; Oláh, Éva; Meloni, Antonella; Myhre, Anne Grethe; Husebye, Eystein S.; Motaghedi, Roja; Perheentupa, Jaakko; Peterson, Pärt; Willcox, Nick; Meager, Anthony

doi:10.1007/s10875-013-9938-6

Cited by 66 publications

(58 citation statements)

References 27 publications

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“…В дальнейшем проводились многочисленные работы по изучению АТ к ИФН-α и -ω, и было до-казано, что они являются высокоспецифичными и высокочувствительными маркерами АПС 1 [9,[11][12][13][14].…”

Section: сведения об авторахunclassified

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

Sozaeva

Karmanov

Breivik

et al. 2015

Probl Endokrinol (Mosk)

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This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ωantibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.

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Section: сведения об авторахunclassified

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

Sozaeva

Karmanov

Breivik

et al. 2015

Probl Endokrinol (Mosk)

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“…48 More recently, an additional criterion has been proposed based on the presence of neutralizing autoantibodies against type I interferons and interleukin (IL)-17A, IL-17F and/ or IL-22 in nearly all APS-1 patients. 49,50 The disease usually manifests in childhood with chronic candidiasis; all three of the main clinical manifestations are present by age 20 in about a third of the patients. 51 However, the clinical course and phenotype of the disease vary widely and although there is some association with certain human leukocyte antigen class II haplotypes, the specific mutation in the AIRE gene does not seem to dictate clinical phenotype.…”

Section: Autoimmune Oophoritis As a Cause For Primary Ovarian Insuffimentioning

confidence: 99%

Ovarian autoimmune disease: clinical concepts and animal models

et al. 2014

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The ovary is not an immunologically privileged organ, but a breakdown in tolerogenic mechanisms for ovary-specific antigens has disastrous consequences on fertility in women, and this is replicated in murine models of autoimmune disease. Isolated ovarian autoimmune disease is rare in women, likely due to the severity of the disease and the inability to transmit genetic information conferring the ovarian disease across generations. Nonetheless, autoimmune oophoritis is often observed in association with other autoimmune diseases, particularly autoimmune adrenal disease, and takes a toll on both society and individual health. Studies in mice have revealed at least two mechanisms that protect the ovary from autoimmune attack. These mechanisms include control of autoreactive T cells by thymus-derived regulatory T cells, as well as a role for the autoimmune regulator (AIRE), a transcriptional regulator that induces expression of tissue-restricted antigens in medullary thymic epithelial cells during development of T cells. Although the latter mechanism is incompletely defined, it is well established that failure of either results in autoimmune-mediated targeting and depletion of ovarian follicles. In this review, we will address the clinical features and consequences of autoimmune-mediated ovarian infertility in women, as well as the possible mechanisms of disease as revealed by animal models.

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“…All patients present autoantibodies against autoantigens expressed in the affected tissue [8] and/or against immune mediators such as interferon-omega (ω) and interleukin (IL)-22 [9,10]. Interestingly, circulating autoantibodies and AIRE -mutations can be found before development of clinical APS-1 [11,12] making the role of environmental triggers particularly relevant in the pathogenesis and phenotypic expression.…”

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confidence: 99%

Oral microbiota in autoimmune polyendocrine syndrome type 1

Bruserud

Siddiqui

Marthinussen

et al. 2018

Journal of Oral Microbiology

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Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease manifestations in the oral cavity, including mucocutaneous candidiasis. Increasing evidence suggests a potential role of the skin, oral and gut microbiotas in the pathogenesis of autoimmunity. To date, no information exists regarding the oral microbiota in APS-1. Objective: To assess the bacterial microbiota of whole saliva in APS-1 patients by using high throughput sequencing. Design: Whole unstimulated saliva was collected from 10 APS-1 patients and 17 healthy controls and examined by high throughput sequencing of the hypervariable region V1-V2 of 16S rRNA using the 454 GS Junior system. Metastats (http://cbcb.umd.edu/software/metastats) was used to analyse the pyrosequencing reads. Results: A reduction in the total number of bacterial genera and species was detected in APS-1 compared to healthy controls. The proportion of the major phyla Firmicutes was higher (60% vs 41%, p = 0.002) and Bacteroidetes lower (15% vs 28%, p = 0.007) in APS-1 compared to healthy controls. On the genus level, Streptococcus and Gemella were prevalent in APS-1. Conclusion: Our findings indicate a significantly altered oral microbiota in APS-1.

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Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood

Cited by 66 publications

References 27 publications

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

Ovarian autoimmune disease: clinical concepts and animal models

Oral microbiota in autoimmune polyendocrine syndrome type 1

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