APECED‐Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort

Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED), caused by autoimmune regulator (AIRE) mutations, manifests with chronic mucocutaneous candidiasis (CMC) and multisystem autoimmunity, most often hypoparathyroidism (HP) and adrenal insufficiency (AI). European cohorts previously reported a ~10% prevalence of APECED‐associated hepatitis (APAH) with presentations ranging from asymptomatic laboratory derangements to fatal fulminant hepatic failure. Herein, we characterized APAH in a large APECED cohort from the Americas.

[1]  A. Giuliani,et al.  IL-13 mRNA tissue content identifies two subsets of adult ulcerative colitis patients with different clinical and mucosa-associated microbiota profiles. , 2020, Journal of Crohn's & colitis.

[2]  Y. Seo,et al.  Comparative Analysis of Fecal Microbiota Composition Between Rheumatoid Arthritis and Osteoarthritis Patients , 2019, Genes.

[3]  Bo Li,et al.  Alterations of gut microbiome in autoimmune hepatitis , 2019, Gut.

[4]  D. Mollura,et al.  Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance , 2019, Science Translational Medicine.

[5]  G. Constantine,et al.  Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy , 2018, Immunological reviews.

[6]  P. Oefner,et al.  Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED , 2019, Endocrine connections.

[7]  C. Bernstein,et al.  Gut Microbiome in Inflammatory Bowel Disease and Other Chronic Immune-Mediated Inflammatory Diseases , 2017, Inflammatory Intestinal Diseases.

[8]  P. Knappskog,et al.  Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1 , 2017, The Journal of clinical endocrinology and metabolism.

[9]  P. Gérard,et al.  Rapid analysis of bile acids in different biological matrices using LC-ESI-MS/MS for the investigation of bile acid transformation by mammalian gut bacteria , 2017, Analytical and Bioanalytical Chemistry.

[10]  A. Czaja Factoring the intestinal microbiome into the pathogenesis of autoimmune hepatitis , 2016, World journal of gastroenterology.

[11]  H. Kong,et al.  Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. , 2016, JCI insight.

[12]  Laura M Cox,et al.  Alterations of the human gut microbiome in multiple sclerosis , 2016, Nature Communications.

[13]  J. Svartberg,et al.  A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1 , 2016, The Journal of clinical endocrinology and metabolism.

[14]  H. Nittono,et al.  Modulation of the fecal bile acid profile by gut microbiota in cirrhosis. , 2013, Journal of Hepatology.

[15]  A. Ranki,et al.  Gastrointestinal Manifestations in APECED Syndrome , 2013, Journal of clinical gastroenterology.

[16]  A. Czaja Autoantibody-Negative Autoimmune Hepatitis , 2012, Digestive Diseases and Sciences.

[17]  A. Meloni,et al.  Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. , 2012, The Journal of clinical endocrinology and metabolism.

[18]  C. Strassburg,et al.  The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1. , 2009, Seminars in liver disease.

[19]  A. Takaki,et al.  Clinical features of antinuclear antibodies‐negative type 1 autoimmune hepatitis , 2009, Hepatology research : the official journal of the Japan Society of Hepatology.

[20]  J. Bollerslev,et al.  Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. , 2007, The Journal of clinical endocrinology and metabolism.

[21]  M. Manns,et al.  Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. , 2001, Gastroenterology.

[22]  M. Manns,et al.  Autoimmune regulator AIRE: Evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1 , 2001, Hepatology.

[23]  C. Betterle,et al.  Autoimmune polyglandular syndrome type 1 , 1998 .

[24]  A. Meloni,et al.  Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1. , 1998, Gastroenterology.

[25]  O. Kämpe,et al.  Cytochrome P450IA2 and aromatic l‐amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I , 1997, FEBS letters.

[26]  R. Tukey,et al.  Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. , 1997, The Journal of clinical endocrinology and metabolism.

[27]  P. Rosenthal,et al.  Liver disease in polyglandular autoimmune disease type one: clinicopathologic study of three patients and review of the literature. , 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

[28]  P. Thuluvath,et al.  Chronic active hepatitis in the type I polyglandular autoimmune syndrome. , 1994, Postgraduate medical journal.

[29]  N. Murphy,et al.  Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population , 2006, Journal of pediatric endocrinology & metabolism : JPEM.

[30]  T. Tuomi,et al.  Autoantibodies against Aromatic L-amino Acid Decarboxylase in Autoimmune Polyendocrine Syndrome Type I* Subjects and Methods Subjects , 2022 .