5 results match your criteria: "V. Fazzi Regional Hospital[Affiliation]"

Autoantibody response against NALP5/MATER in primary ovarian insufficiency and in autoimmune Addison's disease.

J Clin Endocrinol Metab

May 2015

Department of Internal Medicine (A.B., S.M., V.M., A.F.), University of Perugia, 06126 Perugia, Italy; Department of Medical Sciences (M.A., O.K.), Science for Life Laboratory, Uppsala University, 750 03 Uppsala, Sweden; Centre of Molecular Medicine (M.A., A.H., O.K.), Department of Medicine (Solna), Karolinska Institutet, 171 76 Stockholm, Sweden; Division of Endocrinology, Diabetology, and Metabolism (R.G.), Department of Medical Sciences, University of Turin, 10126 Turin, Italy; Department of Cardio-Thoracic and Respiratory Science (A.D.B.), Endocrinology Unit, Second University of Naples, 80132 Naples, Italy; and Department of Pediatrics-Neonatal Intensive Care (R.P.), V. Fazzi Regional Hospital, 73100 Lecce, Italy.

Context: NACHT leucine-rich-repeat protein 5 (NALP5)/maternal antigen that embryo requires (MATER) is an autoantigen in hypoparathyroidism associated with autoimmune polyendocrine syndrome type 1 (APS1) but is also expressed in the ovary. Mater is an autoantigen in experimental autoimmune oophoritis.

Objectives: The objectives of the study were to determine the frequency of NALP5/MATER autoantibodies (NALP5/MATER-Ab) in women with premature ovarian insufficiency (POI) and in patients with autoimmune Addison's disease (AAD) and to evaluate whether inhibin chains are a target for autoantibodies in POI.

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The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein.

Biochim Biophys Acta

February 2014

Biomolecular NMR Laboratory, Center of Translational Genomics and Bioinformatics, Dulbecco Telethon Institute at San Raffaele Scientific Institute, Via Olgettina 58, I-20132, Milan, Italy. Electronic address:

AIRE (for autoimmune regulator) is a multidomain protein that performs a fundamental function in the thymus and possibly in the secondary lymphoid organs: the regulation, especially in the sense of activation, of the process of gene transcription in cell lines deputed to the presentation of self-antigens to the maturing T lymphocytes. The apoptosis of the elements bearing T-cell receptors with critical affinity for the exhibited self-antigens prevents the escape of autoreactive clones and represents a simple and efficient mechanism of deletional self-tolerance. However, AIRE action relies on an articulated complex of biophysical and biochemical properties, in most cases attributable to single subspecialized domains.

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Expression of the autoimmune regulator gene and its relevance to the mechanisms of central and peripheral tolerance.

Clin Dev Immunol

May 2013

Neonatal Intensive Care, Department of Pediatrics, V. Fazzi Regional Hospital, Piazza F. Muratore, 73100 Lecce, Italy.

The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its related protein, AIRE, activates the transcription of genes encoding for tissue-specific antigens (TsAgs) in a subset of medullary thymic epithelial cells: the presentation of TsAgs to the maturating thymocytes induces the apoptosis of the autoreactive clones and constitutes the main form of central tolerance. Dysregulation of thymic AIRE expression in genetically transmitted and acquired diseases other than APS-1 may contribute to further forms of autoimmunity.

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive syndrome characterised by chronic mucocutaneous candidiasis (CMC) and multiple endocrine failures. While the spectrum and modalities of autoimmunity are the main objects of current research into APECED, unequivocal data on the efficiency of immune responses to infectious agents are still elusive. The in vitro ability of monocytes and polymorphonuclear leucocytes to phagocytise and kill bacteria and fungi, and the degree of activation of lymphocytes cultured with mitogens and Candida albicans were investigated by flow cytometry in 11 APECED patients and healthy subjects.

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Reported here are the features of a Rhodotorula mucilaginosa outbreak that occurred in a neonatal intensive care unit. Over a period of 19 days, clinical and laboratory signs of sepsis appeared in four premature infants carrying indwelling vascular catheters. After bloodstream infection with R.

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