Cargando…

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies

INTRODUCTION: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in AIRE gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paldino, Giorgia, Faienza, Maria Felicia, Cappa, Marco, Pietrobattista, Andrea, Capalbo, Donatella, Valenzise, Mariella, Lampasona, Vito, Cudini, Annamaria, Carbone, Elena, Pagliarosi, Olivia, Maggiore, Giuseppe, Salerno, Mariacarolina, Betterle, Corrado, Fierabracci, Alessandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348686/ https://www.ncbi.nlm.nih.gov/pubmed/37457714 http://dx.doi.org/10.3389/fimmu.2023.1172369

Ejemplares similares

In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients
por: Fierabracci, Alessandra, et al.
Publicado: (2022)

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
por: Fierabracci, Alessandra, et al.
Publicado: (2021)

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature
por: Pellegrino, Marsha, et al.
Publicado: (2018)

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors
por: De Martino, Lucia, et al.
Publicado: (2013)

Advances in Immunotherapeutic Approaches to Type 1 Diabetes
por: Cudini, Annamaria, et al.
Publicado: (2023)

Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
por: Valenzise, Mariella, et al.
Publicado: (2017)

Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A “Rare” Manifestation in a “Rare” Disease
por: Fierabracci, Alessandra
Publicado: (2016)

Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto’s thyroiditis to Graves’ disease and beyond
por: Aversa, Tommaso, et al.
Publicado: (2015)

Mild COVID-19 in an APECED Patient with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and High Titer of Type 1 IFN-Abs: A Case Report
por: Valenzise, Mariella, et al.
Publicado: (2023)

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies
por: Laakso, Saila, et al.
Publicado: (2021)

Mild Hypothyroidism in Childhood: Who, When, and How Should Be Treated?
por: Vigone, Maria Cristina, et al.
Publicado: (2018)

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency
por: Improda, Nicola, et al.
Publicado: (2019)

STUDIES ON ANCIENT INDIAN CONCEPT OF ‘ROLE OF IMPAIRED GASTRO – INTESTINAL FUNCTION – ENTEROPATHY’, IN THE PATHOGENESIS AND TREATMENT OF RHEUMATOID ARTHRITIS - AMAVATA
por: Kishore, Prem, et al.
Publicado: (1987)

Epicutaneous Immunotherapy (EPIT) Blocks the Allergic Esophago-Gastro-Enteropathy Induced by Sustained Oral Exposure to Peanuts in Sensitized Mice
por: Mondoulet, Lucie, et al.
Publicado: (2012)

The effect of rebamipide on non-steroidal antiinflammatory drug-induced gastro-enteropathy: a multi-center, randomized pilot study
por: Oh, Dong Jun, et al.
Publicado: (2022)

Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
por: Improda, Nicola, et al.
Publicado: (2014)

Human APECED; a Sick Thymus Syndrome?
por: Arstila, T. Petteri, et al.
Publicado: (2013)

Asian Pacific Endodontic Confederation (APEC) News
por: Ramazani, Mohsen
Publicado: (2017)

Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED
por: Borchers, Joonatan, et al.
Publicado: (2022)

Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
por: Di Dato, Fabiola, et al.
Publicado: (2021)

Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experience
por: Chioma, Laura, et al.
Publicado: (2021)

Early-onset hypoparathyroidism and chronic keratitis revealing APECED
por: Mezgueldi, Ellia, et al.
Publicado: (2015)

Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED
por: Naskali, Emmi, et al.
Publicado: (2019)

The association between APEC strains and some viruses in broilers
por: Iancu, Ionica, et al.
Publicado: (2013)

Structural Analysis of Jumbo Coliphage phAPEC6
por: Wagemans, Jeroen, et al.
Publicado: (2020)

SUN-256 Limited Usefulness of Single IGF-I Measurement as a Screening Test for Growth Hormone Deficiency in Children and Adolescents
por: Ibba, Anastasia, et al.
Publicado: (2019)

Postmenopausal Osteoporosis: The Role of Immune System Cells
por: Faienza, Maria Felicia, et al.
Publicado: (2013)

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
por: Garelli, S., et al.
Publicado: (2021)

The immunofluorescence techniques in the diagnosis of endocrine autoimmune diseases
por: Betterle, Corrado, et al.
Publicado: (2012)

Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child
por: Improda, Nicola, et al.
Publicado: (2012)

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
por: Capalbo, Donatella, et al.
Publicado: (2012)

APECED: is this a model for failure of T cell and B cell tolerance?
por: Kluger, Nicolas, et al.
Publicado: (2012)

Comparative genomics of European avian pathogenic E. Coli (APEC)
por: Cordoni, Guido, et al.
Publicado: (2016)

mcr-1 identified in Avian Pathogenic Escherichia coli (APEC)
por: Lima Barbieri, Nicolle, et al.
Publicado: (2017)

IL‐6‐specific autoantibodies among APECED and thymoma patients
por: Kärner, Jaanika, et al.
Publicado: (2016)

AIRE deficiency, from preclinical models to human APECED disease
por: Besnard, Marine, et al.
Publicado: (2021)

Pregnancy Outcome in Poly-Autoimmune Disorders: The Case of APECED Syndrome
por: Centanni, Marco, et al.
Publicado: (2021)

Avian Pathogenic Escherichia coli (APEC) in Broiler Breeders: An Overview
por: Joseph, Jiddu, et al.
Publicado: (2023)

Preparation and In Vitro Evaluation of RITUXfab-Decorated Lipoplexes to Improve Delivery of siRNA Targeting C1858T PTPN22 Variant in B Lymphocytes
por: Arena, Andrea, et al.
Publicado: (2021)

Tropical Enteropathies
por: Louis-Auguste, John, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_c0ssb9007kcpf37f80ekaeivc3