ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.
Guillet S, Lazarov T, Jordan N, Boisson B, Tello M, Craddock B, Zhou T, Nishi C, Bareja R, Yang H, Rieux-Laucat F, Fregel Lorenzo RI, Dyall SD, Isenberg D, D'Cruz D, Lachmann N, Elemento O, Viale A, Socci ND, Abel L, Nagata S, Huse M, Miller WT, Casanova JL, Geissmann F.
Guillet S, et al.
Elife. 2024 Nov 21;13:RP96085. doi: 10.7554/eLife.96085.
Elife. 2024.
PMID: 39570652
Free PMC article.
Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleterious variants in the non-receptor tyrosine kinases (NRTKs) ACK1 and BRK. Experimental blockade of ACK1 or BRK increased circulati …
Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleteriou …