Søgeresultater - Charlotte Cunningham-Rundles

Genetics and clinical phenotypes in common variable immunodeficiency af Charlotte Cunningham-Rundles, Charlotte Cunningham-Rundles, Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson

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Two Sides of the Same Coin, Pathogenic RTEL1 Mutations af Andrew Wong-Pack, Sohini Kamdar, Charlotte Cunningham-Rundles

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Hickam’s Dictum, a Case of Chronic Granulomatous Disease and CVID-Like Hypogammaglobulinemia af Jamie Fried, Andrew Wong-Pack, Charlotte Cunningham-Rundles

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2153 The plasma contact system and its role in common variable immunodeficiency (CVID): An explorative study af Tukisa Smith, Manish Ponda, Jan Breslow, Charlotte Cunningham-Rundles

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IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFFInflammatory role of bacterial transcytosis in CVID af Hsi-en Ho, Lin Radigan, Eric Meffre, Charlotte Cunningham-Rundles

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Health-Related Quality of Life Reveals Distinct Fatigue and Functional Burden in Inflammatory Common Variable Immunodeficiency af Andrew Wong-Pack, Lin Radigan, Charlotte Cunningham-Rundles, Hsi-En Ho

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Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort af David A. Sanchez, Karina Rotella, Crhistian Toribio, Matthew Hernandez, Charlotte Cunningham-Rundles

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Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collectionAutomated data extraction model for the USIDNET registry af Vaibhavi Vichare, Gonench Kilich, Charlotte Cunningham-Rundles, Michelle Onyekaba, Roshini S. Abraham, Jennifer Puck, Ramsay Fuleihan, Rebecca A. Marsh, Kathleen E. Sullivan

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A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET) af Vaibhavi Vichare, Monica Molina, Russell D'Aiello, Gonench Kilich, Charlotte Cunningham Rundles, Roshini Abraham, Jennifer Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan

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Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1) af Alex Wonnaparhown, MD, Matthew Farley, MD, Holly Miller, DO, Charlotte Cunningham-Rundles, MD, Catherine Freeman, MBBCh, Jacqueline Squire, MD, Talal Hilal, MD, Allison Rosenthal, DO

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USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains af Estefanía Vásquez-Echeverri, Vaibhavi Vichare, Monica Molina, Russell D’Aiello, Gonench Kilich, Charlotte Cunningham Rundles, Jennifer M. Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan

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Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiencyTNFRSF13B/TACI deficiency af Hassan Abolhassani, Andrés Caballero-Oteyza, Mingyu Yang, Michele Proietti, Samaneh Delavari, Patrick Maffucci, Alejandro A. Schäffer, Bertrand Boisson, Jean-Laurent Casanova, Nima Rezaei, Qiang Pan-Hammarström, Charlotte Cunningham-Rundles, Lennart Hammarström, Bodo Grimbacher

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A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestationsCVID SLR af G. Michelle Ducasa, Rebecca A. Marsh, Ali Mojebi, Hsi-en Ho, Charlotte Cunningham-Rundles, Lisa Forbes Satter, Elena W.Y. Hsieh, Sinisa Savic, Marta Dafne Cabañero-Navalón, Hector Balastegui-Martin, Joud Hajjar, Gulbu Uzel, Kevin S. Thorneloe, Jocelyn R. Farmer

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Piloting an automated query and scoring system to facilitate APDS patient identification from health systems af Amy M. FitzPatrick, Aaron T. Chin, Sharon Nirenberg, Charlotte Cunningham-Rundles, Keith Sacco, Jesse Perlmutter, Joseph F. Dasso, Athanasios Tsalatsanis, Jay Maru, Jessica Creech, Jolan E. Walter, Nicholas Hartog, Neema Izadi, Mandy Palmucci, Manish J. Butte, Klaus Loewy, Anurag Relan, Nicholas L. Rider

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Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert CommitteeIUIS inborn errors of immunity 2024 updat... af M. Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, Stuart G. Tangye

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The 2024 update of IUIS phenotypic classification of human inborn errors of immunityThe 2024 phenotypic classification of human inborn errors of immunity af Ahmed Aziz Bousfiha, Leïla Jeddane, Abderrahmane Moundir, M. Cecilia Poli, Ivona Aksentijevich, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Stuart G. Tangye, Isabelle Meyts

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Selective IgA2 deficiency in a patient with small intestinal Crohn’s disease af Pablo Canales-Herrerias, Yolanda Garcia-Carmona, Joan Shang, Hadar Meringer, Debra S. Yee, Lin Radigan, Sofija Buta, Gustavo Martinez-Delgado, Michael Tankelevich, Drew Helmus, Marla Dubinsky, Annelie Everts-van der Mind, Thierry Dervieux, Dusan Bogunovic, Jean-Frederic Colombel, Jason M. Brenchley, Jeremiah Faith, Charlotte Cunningham-Rundles, Andrea Cerutti, Saurabh Mehandru

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CTLA-4 Variant Interpretation and Clinical Impact af Julia Padilha Silva, Andrés Caballero Garcia de Oteyza, Sara Posadas-Cantera, Máté Krausz, Elena Sindram, Laura Gamez-Dias, Sebastian Zeissig, Andre Franke, Britt-Sabina Löscher, Charlotte Cunningham-Rundles, Jennifer Dantzer, Jenny Lingman, Akihiro Hoshino, Faranaz Atschekzei, Georgios Sogkas, Ewa Wiesik-Szewczyk, Frederic Rieux-Laucat, Talal Chatila, Richard Blumberg, Alan Leichtner, Safa Baris, Christo Tsilifis, Nathalie Aladjidi, Eric Jeziorski, Xavier Ayrignac, Jeremie Rosain, Emtenan Basahl, Francesca Conti, Piero Accardo, Sabine Heine, Victoria Paul, Francesco Licciardi, Mary Slatter, Hirokazu Kanegane, Antonios Kolios, Mohammed Ahmad Nashawi, Ben Carpenter, Maria Carrabba, Susana Lopes Silva, Michele Proietti, Bodo Grimbacher

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