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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
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; Rosenzweig, Sergio D.
Afiliación
  • Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Kuehn H; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Boast B; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Hwang S; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Kuhns DB; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
  • Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Niemela JE; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Fink DL; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
  • Pittaluga S; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Abu-Asab M; Electron Microscopy Laboratory, Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Davies JS; Predictive Toxicology Department of Safety Assessment, Genentech, South San Francisco, CA, USA.
  • Barr VA; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Kawai T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Garofalo M; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Carneiro-Sampaio M; Children's Hospital, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
  • Somech R; Pediatric Department A and Immunology Service, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
  • Gharagozlou M; The Jeffrey Modell Foundation Israeli Network for Primary Immunodeficiency, New York, NY, USA.
  • Parvaneh N; Sheba Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Samelson LE; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Centre, University of Medical Sciences, Tehran, Iran.
  • Fleisher TA; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Centre, University of Medical Sciences, Tehran, Iran.
  • Puel A; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Notarangelo LD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
  • Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Derfalvi B; Université Paris Cité, Imagine Institute, Paris, France.
  • Rosenzweig SD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Nat Commun ; 14(1): 3708, 2023 06 22.
Article en En | MEDLINE | ID: mdl-37349293
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 lineages and functions, and when protein expression is reestablished in-vitro, the Arp2/3 complex conformation and functions are rescued. As part of the pathophysiological evaluation, we also show that interleukin (IL)-6 signaling is distinctively impacted in this syndrome. Disruption of IL-6 classical but not trans-signaling highlights their differential roles in the disease and offers perspectives for therapeutic molecular targets.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Actinas / Complejo 2-3 Proteico Relacionado con la Actina Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Actinas / Complejo 2-3 Proteico Relacionado con la Actina Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos