Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signa...
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
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Author / Creator
Nunes-Santos, Cristiane J. , Kuehn, HyeSun , Boast, Brigette , Hwang, SuJin , Kuhns, Douglas B. , Stoddard, Jennifer , Niemela, Julie E. , Fink, Danielle L. , Pittaluga, Stefania , Abu-Asab, Mones , Davies, John S. , Barr, Valarie A. , Kawai, Tomoki , Delmonte, Ottavia M. , Bosticardo, Marita , Garofalo, Mary , Carneiro-Sampaio, Magda , Somech, Raz , Gharagozlou, Mohammad , Parvaneh, Nima , Samelson, Lawrence E. , Fleisher, Thomas A. , Puel, Anne , Notarangelo, Luigi D. , Boisson, Bertrand , Casanova, Jean-Laurent , Derfalvi, Beata and Rosenzweig, Sergio D.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 lineages and functions, and when protein expression is reest...
Alternative Titles
Full title
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
Authors, Artists and Contributors
Author / Creator
Kuehn, HyeSun
Boast, Brigette
Hwang, SuJin
Kuhns, Douglas B.
Stoddard, Jennifer
Niemela, Julie E.
Fink, Danielle L.
Pittaluga, Stefania
Abu-Asab, Mones
Davies, John S.
Barr, Valarie A.
Kawai, Tomoki
Delmonte, Ottavia M.
Bosticardo, Marita
Garofalo, Mary
Carneiro-Sampaio, Magda
Somech, Raz
Gharagozlou, Mohammad
Parvaneh, Nima
Samelson, Lawrence E.
Fleisher, Thomas A.
Puel, Anne
Notarangelo, Luigi D.
Boisson, Bertrand
Casanova, Jean-Laurent
Derfalvi, Beata
Rosenzweig, Sergio D.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_70df5eaacfeb4302a635c2f9e2561b5d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_70df5eaacfeb4302a635c2f9e2561b5d
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-39272-0
