Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dysmorphisms. This defect compromises multiple cell l...

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Bibliographic Details
Main Authors: Cristiane J. Nunes-Santos, HyeSun Kuehn, Brigette Boast, SuJin Hwang, Douglas B. Kuhns, Jennifer Stoddard, Julie E. Niemela, Danielle L. Fink, Stefania Pittaluga, Mones Abu-Asab, John S. Davies, Valarie A. Barr, Tomoki Kawai, Ottavia M. Delmonte, Marita Bosticardo, Mary Garofalo, Magda Carneiro-Sampaio, Raz Somech, Mohammad Gharagozlou, Nima Parvaneh, Lawrence E. Samelson, Thomas A. Fleisher, Anne Puel, Luigi D. Notarangelo, Bertrand Boisson, Jean-Laurent Casanova, Beata Derfalvi, Sergio D. Rosenzweig
Format: Article
Language:English
Published: Nature Portfolio 2023-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-39272-0

Internet

https://doi.org/10.1038/s41467-023-39272-0

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