Therapeutic Area: Autoimmune

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Delmonte OM, et al.
Blood
September 2021
immuneAccess
Authors and Affiliates
Ottavia M Delmonte 1, Jenna Ruth Ember Bergerson 1, Tomoki Kawai 2, Hye Sun Kuehn 3, David H McDermott 4, Irene Cortese 5, Michael T Zimmermann 6, Kerry Dobbs 7, Marita Bosticardo 7, Danielle Fink 8, Shamik Majumdar 9, Boaz Palterer 10, Francesca Pala 11, Nikita R Dsouza 12, Marie Pouzolles 13, Naomi Taylor 14, Katherine Rainsford Calvo 15, Stephen R Daley 16, Daniel S Velez 1, Anahita Agharahimi 17, Katherine Myint-Hpu 17, Lesia Dropulic 7, Jonathan J Lyons 18, Steven M Holland 4, Alexandra F Freeman 2, Rajarshi Ghosh 19, Morgan N Similuk 1, Julie E Niemela 20, Jennifer L Stoddard 1, Douglas B Kuhns 21, Raul Urrutia 22, Sergio Rosenzweig 3, Magdalena A Walkiewicz 1, Philip Murphy 23, Luigi D Notarangelo 11; 1 NIH, Bethesda, Maryland, United States. 2 NIAID, NIH, Bethesda, Maryland, United States. 3 Clinical Center, NIH, Bethesda, Maryland, United States. 4 National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States. 5 National Institute of Neurological Disorders and Strokes, National Institutes of Health, bethesda, Maryland, United States. 6 Clinical And Translational Sciences Institute, Medical College of Wisconsin, United States. 7 National Institutes of Health, Bethesda, Maryland, United States. 8 SAIC-Frederick, Frederick, United States. 9 National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, United States. 10 University of Florence, Florence, Italy. 11 NIAID, National Institutes of Health, Bethesda, Maryland, United States. 12 Lillehei Heart Institute, University of Minnesota, Minneapolis, Minnesota, United States. 13 National Cancer Institute, NIH, United States. 14 Institute e Genetique Moleculaire de Montpellier, Centre National de la Recherche Scientifique, France. 15 National Institutes of Health Clinical Center, Bethesda, Maryland, United States. 16 Centre for Immunology and Infection Control, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Australia. 17 National Institute of Allergy and Infectious Diseases, NIH, bethesda, Maryland, United States. 18 LAD/NIAID/NIH, Bethesda, Maryland, United States. 19 NIAID/NIH, bethesda, Maryland, United States. 20 NIH Clinical Center, Bethesda, Maryland, United States. 21 Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, United States. 22 Department of Surgery, Medical College of Wisconsin, United States. 23 National Institutes of Health, Bethesda, United States.

Immunosequencing of the T-cell receptor repertoire reveals signatures specific for diagnosis and characterization of early Lyme disease

Greissl J, et al.
August 2021
Authors and Affiliates
Julia Greissl *,a, Mitch Pesesky *,b, Sudeb C. Dalai b,c, Alison W. Rebman d, Mark J. Soloski d, Elizabeth J. Horn e, Jennifer N. Dines b, Rachel M. Gittelman b, Thomas M. Snyder b, Ryan O. Emerson b, Edward Meeds a, Thomas Manley b, Ian M. Kaplan b, Lance Baldo b, Jonathan M. Carlson a,†, Harlan S. Robins †,b, John N. Aucott †,d; *Julia Greissl and Mitch Pesesky contributed equally to this study. † Jonathan M. Carlson, Harlan S. Robins, and John N. Aucott contributed equally to the oversight of this study. a Microsoft Research, Redmond, Washington, USA, and Cambridge, UK bAdaptive Biotechnologies, Seattle, Washington, USA c Stanford University School of Medicine, Stanford, California, USA d Lyme Disease Research Center, Division of Rheumatology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA e Lyme Disease Biobank, Portland, Oregon, USA

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures

Chang JW, et al.
Frontiers in Immunology
July 2021
immuneAccess
Authors and Affiliates
Julia W Chang 1, Samuel D Reyes 1, Emmanuelle Faure-Kumar 2, Sandi K Lam 3, Michael W Lawlor 4, Richard J Leventer 5, Sean M Lew 6, Paul J Lockhart 5, Kathryn Pope 5, Howard L Weiner 7, Noriko Salamon 8, Harry V Vinters 9, Gary W Mathern 1, Aria Fallah 1,10, Geoffrey C Owens 1; 1 Department of Neurosurgery, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States. 2 Department of Medicine: Division of Digestive Diseases, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States. 3 Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States. 4 Department of Pathology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, WI, United States. 5 Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia. 6 Department of Neurosurgery, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, WI, United States. 7 Department of Pediatric Neurosurgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States. 8 Department of Radiological Sciences, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States. 9 Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States. 10 Mattel Children's Hospital, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States.

Pre-Transplant T-Cell Clonality: An Observational Study of a Biomarker for Prediction of Sepsis in Liver Transplant Recipients

Jones SL, et al.
June 2021
Authors and Affiliates
Jones, Stephen L 1, Moore, Linda W. 2,3, Li, Xian C. 3,4, Mobley, Constance M. 2, Fields, Paul A. 4, Graviss, Edward A. 5, Nguyen, Duc T. 5, V Nolte Fong, Joy 2, Saharia, Ashish 2, Hobeika, Mark J. 2, McMillan, Robert R. 2, Victor, David W. III 6, Minze, Laurie J. 3, Gaber, A. Osama 2, Ghobrial, R. Mark 2; 1 Center for Outcomes Research, Houston Methodist, Houston, TX 2 Department of Surgery, Houston Methodist, Houston, TX 3 Transplant Immunobiology, Houston Methodist, Houston, TX 4 Adaptive Biotechnologies, Seattle, WA 5 Pathology and Genomic Medicine, Houston Methodist, Houston, TX 6 Department of Medicine, Houston Methodist, Houston, TX.

Single cell analysis of host response to helminth infection reveals the clonal breadth, heterogeneity, and tissue-specific programming of the responding CD4+ T cell repertoire

Brown IK, et al.
PLOS Pathogens
June 2021
immuneAccess
Authors and Affiliates
Ivy K Brown 1, Nathan Dyjack 2, Mindy M Miller 1, Harsha Krovi 3, Cydney Rios 2, Rachel Woolaver 3, Laura Harmacek 2, Ting-Hui Tu 2, Brian P O'Connor 2,3,4, Thomas Danhorn 2, Brian Vestal 2, Laurent Gapin 3, Clemencia Pinilla 5, Max A Seibold 2,4,6, James Scott-Browne 1,2,3, Radleigh G Santos 7, R Lee Reinhardt 1,3; 1 Department of Immunology and Genomic Medicine, National Jewish Health, Denver, Colorado, United States of America. 2 Center for Genes, Environment, and Health, National Jewish Health, Denver, Colorado, United States of America. 3 Department of Immunology and Microbiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, United States of America. 4 Department of Pediatrics, National Jewish Health, Denver, Colorado, United States of America. 5 Florida International University, Port Saint Lucie, Florida, United States of America. 6 Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado School of Medicine, Aurora, Colorado, United States of America. 7 Department of Mathematics, Nova Southeastern University, Fort Lauderdale, Florida, United States of America.

Shared transcriptional profiles of atypical B cells suggest common drivers of expansion and function in malaria, HIV, and autoimmunity

Holla P, et al.
Science Advances
June 2021
Authors and Affiliates
Prasida Holla 1, Brian Dizon 2, Abhijit A Ambegaonkar 1, Noga Rogel 3, Ella Goldschmidt 3, Arun K Boddapati 4, Haewon Sohn 1, Dan Sturdevant 5, James W Austin 6, Lela Kardava 6, Li Yuesheng 7, Poching Liu 7, Susan Moir 6, Susan K Pierce 8, Asaf Madi 9; 1 Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA. 2 National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. 3 Department of Pathology, Sackler School of Medicine, Tel Aviv University, Israel. 4 NIAID Collaborative Bioinformatics Resource, National Institutes of Health, Bethesda, MD, USA. 5 RML Genomics Unit, Research Technologies Section, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA. 6 Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. 7National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 8Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA. asafmadi@gmail.com spierce@nih.gov. 9Department of Pathology, Sackler School of Medicine, Tel Aviv University, Israel. asafmadi@gmail.com spierce@nih.gov.

Identification of antigen-specific TCR sequences based on biological and statistical enrichment in unselected subjects

Smith NP, et al.
JCI Insight
June 2021
Authors and Affiliates
Neal P Smith 1, Bert Ruiter 1, Yamini V Virkud 1, Ang A Tu 2, Brinda Monian 2, James J Moon 1, J Christopher Love 2, Wayne G Shreffler 1; 1 Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Boston, United States of America. 2 Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, United States of America.

Generation of self-reactive, shared T-cell receptor α chains in the human thymus

Heikkilä N., et al.
Journal of Autoimmunity
March 2021
immuneAccess
Authors and Affiliates
Nelli Heikkilä 1, Silja Sormunen 2, Joonatan Mattila 3, Taina Härkönen 4, Mikael Knip 5, Emmi-Leena Ihantola 6, Tuure Kinnunen 7, Ilkka P Mattila 8, Jari Saramäki 2, T Petteri Arstila 3; 1 Research Programs Unit, Translational Immunology, and Medicum, University of Helsinki, Haartmaninkatu 3, 00290, Helsinki, Finland. Electronic address: nelli.heikkila@helsinki.fi. 2 Department of Computer Science, Aalto University, Konemiehenkatu 2, 02150, Espoo, Finland. 3 Research Programs Unit, Translational Immunology, and Medicum, University of Helsinki, Haartmaninkatu 3, 00290, Helsinki, Finland. 4 Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, 00290, Helsinki, Finland. 5 Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, 00290, Helsinki, Finland; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland; Folkhälsan Research Center, Topeliuksenkatu 25, 00250, Helsinki, Finland; Department of Pediatrics, Tampere University Hospital, Elämänaukio 2, 33520, Tampere, Finland. 6 Department of Clinical Microbiology, Institute of Clinical Medicine, University of Eastern Finland, Puijonlaaksontie 2, 70210, Kuopio, Finland. 7 Department of Clinical Microbiology, Institute of Clinical Medicine, University of Eastern Finland, Puijonlaaksontie 2, 70210, Kuopio, Finland; Eastern Finland Laboratory Centre (ISLAB), Puijonlaaksontie 2, 70210, Kuopio, Finland. 8 Department of Pediatric Cardiac and Transplantation Surgery, Hospital for Children and Adolescents, Helsinki University Central Hospital, Stenbäckinkatu 9, 00290, Helsinki, Finland.

Lymphohematopoietic graft-versus-host responses promote mixed chimerism in patients receiving intestinal transplantation

Fu J., et al.
Journal of Clinical Investigation
March 2021
immuneAccess
Authors and Affiliates
Jianing Fu 1, Julien Zuber 1, Brittany Shonts 1, Aleksandar Obradovic 1, Zicheng Wang 2, Kristjana Frangaj 1, Wenzhao Meng 3, Aaron M Rosenfeld 3, Elizabeth E Waffarn 1, Peter Liou 4, Sai-Ping Lau 1, Thomas M Savage 1, Suxiao Yang 1, Kortney Rogers 1, Nichole M Danzl 1, Shilpa Ravella 5, Prakash Satwani 6, Alina Iuga 7, Siu-Hong Ho 1, Adam Griesemer 4, Yufeng Shen 2, Eline T Luning Prak 3, Mercedes Martinez 6, Tomoaki Kato 4, Megan Sykes 1; 1 Columbia Center for Translational Immunology, Department of Medicine, Columbia University, New York, United States of America. 2 Center for Computational Biology and Bioinformatics, Department of Systems , Columbia University, New York, United States of America. 3 Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, United States of America. 4 Department of Surgery, Columbia University, New York, United States of America. 5 Division of Digestive and Liver Diseases, Department of Medicine, Columbia University, New York, United States of America. 6 Department of Pediatrics, Columbia University, New York, United States of America. 7 Department of Pathology and Cell Biology, Columbia University, New York, United States of America.

Role of the thymus in spontaneous development of a multi-organ autoimmune disease in human immune system mice

Khosravi-Maharlooei M, et al.
Journal of Autoimmunity
February 2021
Authors and Affiliates
Mohsen Khosravi-Maharlooei 1, HaoWei Li 1, Markus Hoelzl 1, Guiling Zhao 1, Amanda Ruiz 1, Aditya Misra 1, Yang Li 1, Nato Teteloshvili 1, Grace Nauman 1, Nichole Danzl 1, Xiaolan Ding 1, Elisha Y Pinker 1, Aleksandar Obradovic 1, Yong-Guang Yang 1, Alina Iuga 2, Remi J Creusot 1, Robert Winchester 3, Megan Sykes 4; 1 Columbia Center for Translational Immunology, Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA. 2 Department of Pathology, Columbia University Medical Center, Columbia University, New York, NY, 10032, USA. 3 Department of Pathology, Columbia University Medical Center, Columbia University, New York, NY, 10032, USA; Division of Rheumatology, Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA. 4 Columbia Center for Translational Immunology, Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA; Department of Microbiology & Immunology, Columbia University Medical Center, Columbia University, New York, NY, 10032, USA; Department of Surgery, Columbia University Medical Center, Columbia University, New York, NY, 10032, USA. Electronic address: megan.sykes@columbia.edu.