학술논문
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
Document Type
article
Author
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
Source
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Subject
Language
English
ISSN
2041-1723
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.