Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1
@article{Orlova2017ExpandingTP,
title={Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1},
author={Elizaveta Orlova and Leila S. Sozaeva and Maria A. Kareva and Bergithe Eikeland Oftedal and Anette S.B. Wolff and Lars Ertesv{\aa}g Breivik and Ekaterina Y. Zakharova and Olga N. Ivanova and Olle K{\"a}mpe and Ivan I. Dedov and Per Morten Knappskog and Valentina A. Peterkova and Eystein Sverre Husebye},
journal={The Journal of Clinical Endocrinology \& Metabolism},
year={2017},
volume={102},
pages={3546–3556},
url={https://api.semanticscholar.org/CorpusID:3822560}
}The spectrum of phenotypes and AIRE mutation in APS‐1 has been expanded and Assay of interferon antibodies is a robust screening tool for APs‐1.
87 Citations
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42 References
Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- 2010
Medicine
It is found that the R257X AIRE mutation is common in Russian APS-1 patients, and the majority of children with hypoparathyroidism and chronic mucocutaneous candidiasis were carriers of the AIRE mutations.
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
- 2012
Medicine
The single AIRE mutation, R139X, and the anti-IFN-ω and IFN-α autoantibodies are helpful for earlier diagnosis, especially when APS1 presents unusually.
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
- 2007
Medicine
The clinical features and the AIRE mutations are more diverse in the Norwegian population than previously thought, and some patients with APS I clinically resemble those from Finland and other European countries, but some have milder phenotypes.
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
- 2016
Medicine
Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-ω) and AIRE sequencing to reveal APS1, even in adults.
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
- 2008
Medicine
NALP5 appears to be a tissue-specific autoantigen involved in hypoparathyroidism in patients with APS-1 and may be diagnostic for this prominent component of APs-1.
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I
- 2009
Medicine
This work presents a comprehensive overview on clinical characteristics, treatment and follow‐up based on personal experience and published studies for APS‐I.
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
- 2016
Medicine
American APECED patients develop a diverse syndrome, with dramatic enrichment in organ-specific nonendocrine manifestations starting early in life, compared with European patients, and incorporation of these new manifestations into American diagnostic criteria would accelerate diagnosis by approximately 4 years and potentially prevent life-threatening endocrine complications.
Neurologic consequences of autoimmune polyglandular syndrome type 1
- 2008
Medicine
A patient with a previously undescribed autoimmune cerebellar degeneration occurring in association with APS-1 is reported with gait ataxia associated with band-like hyperintense signal abnormalities of both Cerebellar hemispheres and a unique antibody to cerebellAR Purkinje cells and brainstem neurons.
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
- 2008
Medicine
Precocious persistent antibodies found in patients with thymoma and/or myasthenia gravis show 98% or higher sensitivity and APS-I specificity and are thus a simpler diagnostic option than detecting AIRE mutations.
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
- 2009
Medicine
Autoantibodies to KCNRG, a protein mainly expressed in bronchial epithelium, are strongly associated with pulmonary involvement in APS-1, and these findings may facilitate the recognition, diagnosis, characterization, and understanding of the pulmonary manifestations of APs-1.





