Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

Yield of a Public Health Screening of Children for Islet Autoantibodies in Bavaria, Germany

(2020) Anette-Gabriele Ziegler et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections

(2020) Joonatan Borchers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

THE NATURAL HISTORY OF AUTOIMMUNE ADDISON’S DISEASE FROM THE DETECTION OF AUTOANTIBODIES TO DEVELOPMENT OF THE DISEASE: A LONG FOLLOW-UP STUDY ON 143 PATIENTS.

(2019) Lara Naletto et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Epidemiology, pathogenesis, and diagnosis of Addison’s disease in adults

(2019) C. Betterle et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)

(2018) Can-Jie Guo et al.   AUTOIMMUNITY REVIEWS

Autoimmune Polyendocrine Syndromes

(2018) Eystein S. Husebye et al.   NEW ENGLAND JOURNAL OF MEDICINE

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

(2018) Øyvind Bruserud et al.   Frontiers in Endocrinology

The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers

(2018) Fernanda Guimarães Weiler et al.   CLINICAL IMMUNOLOGY

Update on Aire and thymic negative selection

(2017) Geraldo A. Passos et al.   IMMUNOLOGY

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

(2017) Elizaveta M Orlova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study

(2017) Ghazala Zaidi et al.   Endocrine Connections

Large Granular Lymphocyte Leukemia with Pure Red Cell Aplasia Associated with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: An Unfortuitous Association?

(2017) B. Hervier et al.   INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY

AIRE-mutations and autoimmune disease

(2016) Øyvind Bruserud et al.   CURRENT OPINION IN IMMUNOLOGY

Autoimmune polyendocrine syndrome type 1: case report and review of literature

(2016) Fernanda Guimarães Weiler et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED

(2015) Nicolas Kluger et al.   CLINICAL IMMUNOLOGY

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

(2015) Bergithe E. Oftedal et al.   IMMUNITY

Gonadal function in males with autoimmune Addison's disease and autoantibodies to steroidogenic enzymes

(2014) M. Dalla Costa et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily

(2014) Mariella Valenzise et al.   Hormone Research in Paediatrics

Age-Related Mortality Trends in Italy from 1901 to 2008

(2014) Marina Vercelli et al.   PLoS One

Tryptophan Hydroxylase Autoantibodies as Markers of a Distinct Autoimmune Gastrointestinal Component of Autoimmune Polyendocrine Syndrome Type 1

(2013) R. Scarpa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors

(2013) Lucia De Martino et al.   Frontiers in Immunology

Autoimmune Manifestations in Large Granular Lymphocyte Leukemia

(2012) Bruno Bockorny et al.   Clinical Lymphoma Myeloma & Leukemia

Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes

(2012) Mariella Valenzise et al.   GENE

Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients

(2012) Antonella Meloni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Polyglandular Autoimmune Syndrome Type I

(2012) Emmanuelle Proust-Lemoine et al.   PRESSE MEDICALE

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

(2011) Cinzia Mazza et al.   CLINICAL IMMUNOLOGY

Premature Ovarian Failure in Patients with Autoimmune Addison's Disease: Clinical, Genetic, and Immunological Evaluation

(2011) G. Reato et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity

(2010) Alessandra Fierabracci   AUTOIMMUNITY REVIEWS

AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED

(2010) Sara Cervato et al.   CLINICAL ENDOCRINOLOGY

Novel sequence variation ofAIREand detection of interferon-ω antibodies in early infancy

(2009) Beáta Tóth et al.   CLINICAL ENDOCRINOLOGY

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

(2009) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE

(2008) Donatella Capalbo et al.   CLINICAL ENDOCRINOLOGY

Increased death risk and altered cancer incidence pattern in patients with isolated or combined autoimmune primary adrenocortical insufficiency

(2008) Sophie Bensing et al.   CLINICAL ENDOCRINOLOGY

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives

(2008) Sara Cervato et al.   CLINICAL ENDOCRINOLOGY

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease

(2008) Ng'weina F. Magitta et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1

(2008) Katarina Trebušak Podkrajšek et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Normal overall mortality rate in Addison's disease, but young patients are at risk of premature death

(2008) Martina M Erichsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

(2008) Mohammad Alimohammadi et al.   NEW ENGLAND JOURNAL OF MEDICINE