Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been reported. Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. We report on the immunologic, cellular, and molecular phenotypes in 14 patients with biallelic ARPC1B mutations and variable clinical presentations (Fig 1, A and B; see Fig E1, A, and Table E1 in this article's Online Repository at www.jacionline.org; for case descriptions, see this article's Online Repository at www.jacionline.org), helping to delineate the broad spectrum of this novel disease and presenting unreported insights into cell-intrinsic defects involving regulatory T (Treg) cells and natural killer (NK) cells, potential players in the immune dysregulation and susceptibility to viral infections observed in these patients.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Volpi, Stefano;Bottino, Cristina;Caorsi, Roberta;Chiesa, Sabrina;Gattorno, Marco;Marcenaro, Stefania;
2019-01-01

Abstract

Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been reported. Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. We report on the immunologic, cellular, and molecular phenotypes in 14 patients with biallelic ARPC1B mutations and variable clinical presentations (Fig 1, A and B; see Fig E1, A, and Table E1 in this article's Online Repository at www.jacionline.org; for case descriptions, see this article's Online Repository at www.jacionline.org), helping to delineate the broad spectrum of this novel disease and presenting unreported insights into cell-intrinsic defects involving regulatory T (Treg) cells and natural killer (NK) cells, potential players in the immune dysregulation and susceptibility to viral infections observed in these patients.
File in questo prodotto:
File Dimensione Formato  
Volpi JACI 2019.pdf

accesso chiuso

Tipologia: Documento in versione editoriale
Dimensione 882.29 kB
Formato Adobe PDF
882.29 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/946328
Citazioni
  • ???jsp.display-item.citation.pmc??? 38
  • Scopus 83
  • ???jsp.display-item.citation.isi??? 69
social impact