Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy. 2023

Fabienne Charbit-Henrion, and Manon Haas, and Stanislas Chaussade, and Christophe Cellier, and Nadine Cerf-Bensussan, and Georgia Malamut, and , and Sherine Khater, and Anis Khiat, and Sascha Cording, and Marianna Parlato, and Marie-Agnès Dragon-Durey, and Frédéric Beuvon, and Nicole Brousse, and Benoît Terris, and Capucine Picard, and Mathieu Fusaro, and Frédéric Rieux-Laucat, and Marie-Claude Stolzenberg, and Anne-Sophie Jannot, and Alexis Mathian, and Matthieu Allez, and Marion Malphettes, and Claire Fieschi, and Alexandre Aubourg, and Camille Zallot, and Xavier Roblin, and Vered Abitbol, and Arthur Belle, and Pauline Wils, and Morgane Cheminant, and Tamara Matysiak-Budnik, and Lucine Vuitton, and Philippe Pouderoux, and Laurent Abramowitz, and Martin Castelle, and Felipe Suarez, and Olivier Hermine, and Frank Ruemmele, and Luc Mouthon
Université Paris Cité, INSERM UMR 1163 and Imagine Institute, Laboratory of Intestinal Immunity, Paris, France; Department of Molecular Genetics, AP-HP, Centre-Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

UI MeSH Term Description Entries
D007410 Intestinal Diseases Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM. Disease, Intestinal,Diseases, Intestinal,Intestinal Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001327 Autoimmune Diseases Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides. Autoimmune Disease,Disease, Autoimmune,Diseases, Autoimmune
D016884 Polyendocrinopathies, Autoimmune Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy,Autoimmune Syndrome Type I, Polyglandular,Autoimmune Syndrome Type II, Polyglandular,Polyglandular Type I Autoimmune Syndrome,Polyglandular Type II Autoimmune Syndrome,Schmidt's Syndrome,AIRE Deficiency,APECED,APS Type 1,Autoimmune Polyendocrine Syndrome, Type 2,Autoimmune Polyendocrine Syndrome, Type II,Autoimmune Polyendocrinopathy Syndrome Type 1,Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy,Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy,Autoimmune Polyglandular Syndrome Type I,Autoimmune Polyglandular Syndrome Type II,Autoimmune Polyglandular Syndrome Type III,Autoimmune Polyglandular Syndrome, Type 1,Autoimmune Polyglandular Syndrome, Type 3,Autoimmune Polyglandular Syndrome, Type I,Autoimmune Syndrome Type III, Polyglandular,Diabetes Mellitus, Addison Disease, Myxedema,Diabetes Mellitus, Addison's Disease, Myxedema,Multiple Endocrine Deficiency Syndrome, Type 2,Polyendocrine Autoimmune Syndrome, Type II,Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune,Polyglandular Autoimmune Syndrome, Type 1,Polyglandular Autoimmune Syndrome, Type 2,Polyglandular Autoimmune Syndrome, Type 3,Polyglandular Autoimmune Syndrome, Type I,Polyglandular Deficiency Syndrome, Type 2,Polyglandular Type III Autoimmune Syndrome,Schmidt Syndrome,AIRE Deficiencies,Autoimmune Polyendocrinopathy,Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy,Deficiency, AIRE,Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune,Polyendocrinopathy, Autoimmune,Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune,Syndrome, Schmidt,Syndrome, Schmidt's

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