ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

Systemic lupus erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleterious variants in the non-r...

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Main Authors: Stephanie Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson, Maria Tello, Barbara Craddock, Ting Zhou, Chihiro Nishi, Rohan Bareja, Hairu Yang, Frederic Rieux-Laucat, Rosa Irene Fregel Lorenzo, Sabrina D Dyall, David Isenberg, David D'Cruz, Nico Lachmann, Olivier Elemento, Agnes Viale, Nicholas D Socci, Laurent Abel, Shigekazu Nagata, Morgan Huse, W Todd Miller, Jean-Laurent Casanova, Frédéric Geissmann
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2024-11-01
Series:eLife
Subjects:
systemic lupus
genetic diseases
ACK1
BRK
Online Access:https://elifesciences.org/articles/96085
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https://elifesciences.org/articles/96085

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