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

Delmonte OM, et al.
Blood
September 2021
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.

HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related auto-inflammatory disease

Martinez CA, et al.
Blood
September 2021
Authors and Affiliates
Caridad A Martinez 1, Frederic Ebstein 2, Sarah K Nicholas 3, Marietta De Guzman 3, Lisa R Forbes 3, Ottavia M Delmonte 4, Marita Bosticardo 5, Riccardo Castagnoli 4, Robert Krance 3, Luigi D Notarangelo 6, Elke Krüger 2, Jordan S Orange 7, M Cecilia Poli 8; 1 Texas Children's Hospital, Houston, Texas, United States. 2 Universitätsmedizin Greifswald, Greifswald, Germany. 3 Texas Children´s Hospital, United States. 4 NIH, Bethesda, Maryland, United States. 5 National Institutes of Health, Bethesda, Maryland, United States. 6 NIAID, National Institutes of Health, Bethesda, Maryland, United States. 7 Columbia University, New York, New York, United States. 8 Baylor College of Medicina, United States.

The RAG1 N-terminal region regulates the efficiency and pathways of synapsis for V(D)J recombination

Beilinson HA, et al.
Journal of Experimental Medicine
August 2021
Authors and Affiliates
Helen A Beilinson 1, Rebecca A Glynn 2,3, Anurupa Devi Yadavalli 1,4, Jianxiong Xiao 1, Elizabeth Corbett 1, Huseyin Saribasak 1, Rahul Arya 3, Charline Miot 3, Anamika Bhattacharyya 5, Jessica M Jones 5, Jagan M R Pongubala 4, Craig H Bassing 2,3, David G Schatz 1,6; 1 Department of Immunobiology, Yale School of Medicine, Yale University, New Haven, CT. 2 Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 3 Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 4 Department of Animal Biology, School of Life Sciences, University of Hyderabad, Hyderabad, India. 5 Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, Washington, DC. 6 Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.

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

Expansion of Unique Hepatitis C Virus-Specific Public CD8 + T Cell Clonotypes during Acute Infection and Reinfection

Mazouz S, et al.
Journal of Immunology
August 2021
Authors and Affiliates
Sabrina Mazouz 1,2, Maude Boisvert 1, Mohamed S Abdel-Hakeem 1,2, Omar Khedr 1, Julie Bruneau 1,3, Naglaa H Shoukry 4,5; 1 Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. 2 Département de Microbiologie, Infectiologie et Immunologie, Université de Montreal, Montreal, Quebec, Canada. 3 Département de Médecine Familiale et de Médecine d'Urgence, Université de Montréal, Montreal, Quebec, Canada; and. 4 Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada; naglaa.shoukry@umontreal.ca. 5 Département de Médecine, Université de Montréal, Montreal, Quebec, Canada.

Tumor-infiltrating lymphocyte treatment for anti-PD-1-resistant metastatic lung cancer: a phase 1 trial

Creelan BC, et al.
Nature Medicine
August 2021
Authors and Affiliates
Benjamin C Creelan #,1, Chao Wang #,2, Jamie K Teer 3, Eric M Toloza 2, Jiqiang Yao 3, Sungjune Kim 4, Ana M Landin 5, John E Mullinax 6, James J Saller 7, Andreas N Saltos 2, David R Noyes 4, Leighann B Montoya 8, Wesley Curry 8, Shari A Pilon-Thomas 4, Alberto A Chiappori 2, Tawee Tanvetyanon 2, Frederic J Kaye 9, Zachary J Thompson 2, Sean J Yoder 10, Bin Fang 10, John M Koomen 10, Amod A Sarnaik 2, Dung-Tsa Chen 3, Jose R Conejo-Garcia 2, Eric B Haura #,2, Scott J Antonia #,11; 1 Department of Thoracic Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. ben.creelan@moffitt.org. 2 Department of Thoracic Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 3 Department of Bioinformatics and Biostatistics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 4 Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 5 Cell Therapy Facility, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 6 Department of Sarcoma, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 7 Department of Pathology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 8 Immune and Cellular Therapy Program, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 9 Department of Medicine, University of Florida College of Medicine, Gainesville, FL, USA. 10 Chemical Biology & Molecular Medicine, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA. 11 Duke Cancer Institute, Duke University School of Medicine, Durham, NC, USA. # Contributed equally.

Phase Ib study of patients with metastatic castrate-resistant prostate cancer treated with different sequencing regimens of atezolizumab and sipuleucel-T

Dorff T, et al.
Journal for ImmunoTherapy of Cancer
August 2021
Authors and Affiliates
Tanya Dorff 1, Yosuke Hirasawa 2, Jared Acoba 3, Ian Pagano 3, David Tamura 3, Sumanta Pal 1, Minlu Zhang 4, Rebecca Waitz 4, Abhilash Dhal 4, Winston Haynes 4, John Shon 4, Mark Scholz 5, Hideki Furuya 2, Owen T M Chan 3, Jeffrey Huang 3, Charles Rosser 6; 1 Department of Medical Oncology and Therapeutics Research, City of Hope National Medical Center, Duarte, California, USA. 2 Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA. 3 University of Hawaii Cancer Center, Honolulu, Hawaii, USA. 4 Serimmune, Goleta, California, USA. 5 Prostate Oncology Specialists, Marina del Rey, California, USA. 6 Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA charles.rosser@cshs.org.

GIANA allows computationally-efficient TCR clustering and multi-disease repertoire classification by isometric transformation

Zhang H, et al.
Nature Communications
August 2021
Authors and Affiliates
Hongyi Zhang 1, Xiaowei Zhan 2, Bo Li 3,4; 1 Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX, USA. 2 Department of Population and Data Science, UT Southwestern Medical Center, Dallas, TX, USA. 3 Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX, USA. bo.li@utsouthwestern.edu. 4 Department of Immunology, UT Southwestern Medical Center, Dallas, TX, USA. bo.li@utsouthwestern.edu.

Systemic inhibition of PTPN22 augments anticancer immunity

Ho WJ, et al.
JCI
August 2021
Authors and Affiliates
Won Jin Ho 1, Sarah Croessmann 2, Jianping Lin 3, Zaw H Phyo 1, Soren Charmsaz 1, Ludmila Danilova 1, Aditya A Mohan 1, Nicole E Gross 1, Fangluo Chen 1, Jiajun Dong 3, Devesh Aggarwal 3, Yunpeng Bai 3, Janey Wang 4, Jing He 4, James M Leatherman 1, Mark Yarchoan 1, Todd D Armstrong 1, Neeha Zaidi 1, Elana J Fertig 1, Joshua C Denny 4, Ben H Park 2, Zhong-Yin Zhang 3, Elizabeth M Jaffee 5; 1 Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, United States of America. 2 Department of Medicine, Vanderbilt University Medical Center, Nashville, United States of America. 3 Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, United States of America. 4 Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, United States of America. 5 Sidney Kimmel Comprehensive Cancer Center, John Hopkins University, Baltimore, United States of America.
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