Nature Communications (Mar 2023)
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
- Adriana A. de Jesus,
- Guibin Chen,
- Dan Yang,
- Tomas Brdicka,
- Natasha M. Ruth,
- David Bennin,
- Dita Cebecauerova,
- Hana Malcova,
- Helen Freeman,
- Neil Martin,
- Karel Svojgr,
- Murray H. Passo,
- Farzana Bhuyan,
- Sara Alehashemi,
- Andre T. Rastegar,
- Katsiaryna Uss,
- Lela Kardava,
- Bernadette Marrero,
- Iris Duric,
- Ebun Omoyinmi,
- Petra Peldova,
- Chyi-Chia Richard Lee,
- David E. Kleiner,
- Colleen M. Hadigan,
- Stephen M. Hewitt,
- Stefania Pittaluga,
- Carmelo Carmona-Rivera,
- Katherine R. Calvo,
- Nirali Shah,
- Miroslava Balascakova,
- Danielle L. Fink,
- Radana Kotalova,
- Zuzana Parackova,
- Lucie Peterkova,
- Daniela Kuzilkova,
- Vit Campr,
- Lucie Sramkova,
- Angelique Biancotto,
- Stephen R. Brooks,
- Cameron Manes,
- Eric Meffre,
- Rebecca L. Harper,
- Hyesun Kuehn,
- Mariana J. Kaplan,
- Paul Brogan,
- Sergio D. Rosenzweig,
- Melinda Merchant,
- Zuoming Deng,
- Anna Huttenlocher,
- Susan L. Moir,
- Douglas B. Kuhns,
- Manfred Boehm,
- Karolina Skvarova Kramarzova,
- Raphaela Goldbach-Mansky
Affiliations
- Adriana A. de Jesus
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Guibin Chen
- National Heart, Lung, and Blood Institute, National Institutes of Health
- Dan Yang
- National Heart, Lung, and Blood Institute, National Institutes of Health
- Tomas Brdicka
- Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Czech Academy of Sciences
- Natasha M. Ruth
- Medical University of South Carolina
- David Bennin
- Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison
- Dita Cebecauerova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Hana Malcova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Helen Freeman
- Raigmore Hospital
- Neil Martin
- Royal Hospital for Children
- Karel Svojgr
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Murray H. Passo
- Medical University of South Carolina
- Farzana Bhuyan
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Sara Alehashemi
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Andre T. Rastegar
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Katsiaryna Uss
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Lela Kardava
- Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Bernadette Marrero
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Iris Duric
- Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Czech Academy of Sciences
- Ebun Omoyinmi
- Great Ormond Street Hospital for Children NHS Foundation Trust
- Petra Peldova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Chyi-Chia Richard Lee
- National Cancer Institute, National Institutes of Health
- David E. Kleiner
- National Cancer Institute, National Institutes of Health
- Colleen M. Hadigan
- Clinical Center, National Institutes of Health
- Stephen M. Hewitt
- National Cancer Institute, National Institutes of Health
- Stefania Pittaluga
- National Cancer Institute, National Institutes of Health
- Carmelo Carmona-Rivera
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Katherine R. Calvo
- Clinical Center, National Institutes of Health
- Nirali Shah
- National Cancer Institute, National Institutes of Health
- Miroslava Balascakova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Danielle L. Fink
- Collaborative Clinical Research Branch/Neutrophil Monitoring Laboratory, National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Radana Kotalova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Zuzana Parackova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Lucie Peterkova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Daniela Kuzilkova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Vit Campr
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Lucie Sramkova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Angelique Biancotto
- Sanofi Oncology
- Stephen R. Brooks
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Cameron Manes
- Yale University
- Eric Meffre
- Yale University
- Rebecca L. Harper
- National Heart, Lung, and Blood Institute, National Institutes of Health
- Hyesun Kuehn
- Clinical Center, National Institutes of Health
- Mariana J. Kaplan
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Paul Brogan
- Great Ormond Street Hospital for Children NHS Foundation Trust
- Sergio D. Rosenzweig
- Clinical Center, National Institutes of Health
- Melinda Merchant
- AstraZeneca Research Based Biopharmaceutical Company
- Zuoming Deng
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Anna Huttenlocher
- Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison
- Susan L. Moir
- Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Douglas B. Kuhns
- Collaborative Clinical Research Branch/Neutrophil Monitoring Laboratory, National Institute of Allergy and Infectious Diseases, National Institutes of Health
- Manfred Boehm
- National Heart, Lung, and Blood Institute, National Institutes of Health
- Karolina Skvarova Kramarzova
- Second Faculty of Medicine, Charles University/University Hospital Motol
- Raphaela Goldbach-Mansky
- Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health
- DOI
- https://doi.org/10.1038/s41467-023-36941-y
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 13
Abstract
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and identify de novo truncating and missense variants in the Src-family tyrosine kinase LYN.
