Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

por ALSAFRI, Maleha S., CHARBIT-HENRION, Fabienne, LACAILLE, Florence, BOURRAT, Emmanuelle, STEFFANN, Julie, HADJ-RABIA, Smail
Publicado 2020

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency

por Bakhtiar, Shahrzad, Ruemmele, Frank, Charbit-Henrion, Fabienne, Lévy, Eva, Rieux-Laucat, Frédéric, Cerf-Bensussan, Nadine, Bader, Peter, Paetow, Ulrich
Publicado 2016

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

por Fertitta, Laura, Charbit-Henrion, Fabienne, Leclerc-Mercier, Stéphanie, Nguyen-Khoa, Thao, Baran, Robert, Alby, Caroline, Steffann, Julie, Sermet-Gaudelus, Isabelle, Hadj-Rabia, Smail
Publicado 2022

Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France

por Hamon, Annick, Cazals-Hatem, Dominique, Stefanescu, Carmen, Uzzan, Mathieu, Treton, Xavier, Sauvanet, Alain, Panis, Yves, Monsinjon, Marie, Bonvalet, Fanny, Corcos, Olivier, Azouguene, Emilie, Cerf-Bensussan, Nadine, Bouhnik, Yoram, Charbit-Henrion, Fabienne
Publicado 2022

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options

por Rodari, Marco M., Cazals-Hatem, Dominique, Uzzan, Mathieu, Martin Silva, Nicolas, Khiat, Anis, Ta, Minh Chau, Lhermitte, Ludovic, Touzart, Aurore, Hanein, Sylvain, Rouillon, Cléa, Joly, Francisca, Elmorjani, Adrienne, Steffann, Julie, Cerf-Bensussan, Nadine, Parlato, Marianna, Charbit-Henrion, Fabienne
Publicado 2023

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

por Parlato, Marianna, Charbit-Henrion, Fabienne, Elie, Abi Nader, Begue, Bernadette, Guegan, Nicolas, Bruneau, Julie, Khater, Shérine, Macintyre, Elizabeth, Picard, Capucine, Frédéric, Rieux-Laucat, Le Bourhis, Lionel, Allez, Matthieu, Goulet, Olivier, Cellier, Christophe, Hermine, Olivier, Cerf-Bensussan, Nadine, Malamut, Georgia
Publicado 2019

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

por Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc’h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M., Cerf-Bensussan, Nadine
Publicado 2018

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

por Joosse, Maria E., Charbit-Henrion, Fabienne, Boisgard, Remy, Raatgeep, Rolien (H.) C., Lindenbergh-Kortleve, Dicky J., Costes, Léa M. M., Nugteren, Sandrine, Guegan, Nicolas, Parlato, Marianna, Veenbergen, Sharon, Malan, Valérie, Nowak, Jan K., Hollink, Iris H. I. M., Mearin, M. Luisa, Escher, Johanna C., Cerf-Bensussan, Nadine, Samsom, Janneke N.
Publicado 2021

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

por Parlato, Marianna, Charbit‐Henrion, Fabienne, Pan, Jie, Romano, Claudio, Duclaux‐Loras, Rémi, Le Du, Marie‐Helene, Warner, Neil, Francalanci, Paola, Bruneau, Julie, Bras, Marc, Zarhrate, Mohammed, Bègue, Bernadette, Guegan, Nicolas, Rakotobe, Sabine, Kapel, Nathalie, De Angelis, Paola, Griffiths, Anne M, Fiedler, Karoline, Crowley, Eileen, Ruemmele, Frank, Muise, Aleixo M, Cerf‐Bensussan, Nadine
Publicado 2018

Systemic inflammatory syndrome in children with FARSA deficiency

por Charbit‐Henrion, Fabienne, Goguyer‐Deschaumes, Roman, Borensztajn, Keren, Mirande, Marc, Berthelet, Jérémy, Rodrigues‐Lima, Fernando, Khiat, Anis, Frémond, Marie‐Louise, Bader‐Meunier, Brigitte, Rodari, Marco M., Seabra, Luis, Rice, Gillian I., Legendre, Marie, Drummond, David, Berteloot, Laureline, Roux, Charles‐Joris, Boddaert, Nathalie, Drabent, Philippe, Molina, Thierry Jo, Lacaille, Florence, Kossorotoff, Manoelle, Cerf‐Bensussan, Nadine, Parlato, Marianna, Hadchouel, Alice
Publicado 2022

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy

por Charbit-Henrion, Fabienne, Haas, Manon, Chaussade, Stanislas, Cellier, Christophe, Cerf-Bensussan, Nadine, Malamut, Georgia, Khater, Sherine, Khiat, Anis, Cording, Sascha, Parlato, Marianna, Dragon-Durey, Marie-Agnès, Beuvon, Frédéric, Brousse, Nicole, Terris, Benoît, Picard, Capucine, Fusaro, Mathieu, Rieux-Laucat, Frédéric, Stolzenberg, Marie-Claude, Jannot, Anne-Sophie, Mathian, Alexis, Allez, Matthieu, Malphettes, Marion, Fieschi, Claire, Aubourg, Alexandre, Zallot, Camille, Roblin, Xavier, Abitbol, Vered, Belle, Arthur, Wils, Pauline, Cheminant, Morgane, Matysiak-Budnik, Tamara, Vuitton, Lucine, Pouderoux, Philippe, Abramowitz, Laurent, Castelle, Martin, Suarez, Felipe, Hermine, Olivier, Ruemmele, Frank, Mouthon, Luc
Publicado 2023

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

por Duclaux-Loras, Rémi, Lebreton, Corinne, Berthelet, Jérémy, Charbit-Henrion, Fabienne, Nicolle, Ophelie, Revenu des Courtils, Céline, Waich, Stephanie, Valovka, Taras, Khiat, Anis, Rabant, Marion, Racine, Caroline, Guerrera, Ida Chiara, Baptista, Júlia, Mahe, Maxime M., Hess, Michael W., Durel, Béatrice, Lefort, Nathalie, Banal, Céline, Parisot, Mélanie, Talbotec, Cecile, Lacaille, Florence, Ecochard-Dugelay, Emmanuelle, Demir, Arzu Meltem, Vogel, Georg F., Faivre, Laurence, Rodrigues, Astor, Fowler, Darren, Janecke, Andreas R., Müller, Thomas, Huber, Lukas A., Rodrigues-Lima, Fernando, Ruemmele, Frank M., Uhlig, Holm H., Del Bene, Filippo, Michaux, Grégoire, Cerf-Bensussan, Nadine, Parlato, Marianna
Publicado 2022

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

por Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna
Publicado 2021

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

por Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Publicado 2018

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

por Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Publicado 2020