C. Betterle

Publications323
h-index55
Citations10,078
Highly Influential Citations306
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Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.
TLDR
Imaging of adrenal glands, genetic tests, and biochemical analysis have been shown to contribute to early and correct diagnosis of primary non-autoimmune AD in the cases of hypoadrenalism with undetectable adrenal autoantibodies.
Update on autoimmune polyendocrine syndromes (APS).
TLDR
Criteria for defining a disease as autoimmune are presented, the classification, epidemiology, pathogenesis, genetic, animal models, clinical features, laboratory's tests, imaging, therapy, recent progresses in understanding the APS and a detailed analysis of large group of patients affected by different types of APS are proposed and discussed.
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
TLDR
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 review 93: Autoimmune polyglandular syndrome type 1.
Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?
TLDR
Historical, clinical, genetic, and immunological aspects of Type 2 APS, defined by the occurrence of Addison's disease with thyroid autoimmune disease and/or Type 1 diabetes mellitus are reviewed.
Consensus statement on the diagnosis, treatment and follow‐up of patients with primary adrenal insufficiency
TLDR
A European Expert Consensus Statement for diagnosis, treatment and follow‐up ofPrimary adrenal insufficiency is attempted to provide a guide for the treatment and detection of new autoimmune diseases.
Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure.
TLDR
Overall, the studies indicate that 35S-labeled 17 alpha-OH, P450scc, and 21-OH can be used successfully in IPAs for their respective autoantibodies and may well be valuable in the immunological assessment of patients at risk for or suspected of adrenal autoimmunity.
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
TLDR
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.
Estimated risk for developing autoimmune Addison's disease in patients with adrenal cortex autoantibodies.
TLDR
These results were used to construct a risk algorithm for estimating the probability of developing AAD from the combination of gender, age, adrenal function, antibody titer, and associated autoimmune disorders at entry and could be used to decide appropriate follow-up intervals and future immunointervention strategies.
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
TLDR
The identification of common AIRE mutations in different APECED patient groups will facilitate its genetic diagnosis and provide the tools for investigation of the involvement of AIRE in other autoimmune diseases, particularly those affecting the endocrine system.
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