Genes and immunity
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.
Megan M Dobrose, Meltem Ece Kars, Jareb J Perez-Caraballo, Colleen M Roark, Christine Mariskanish, Oscar Zavaleta-Martinez, Noemi Gomez-Hernandez, Saul Oswaldo Lugo-Reyes, Yuval Itan, Lizbeth Blancas-Galicia, Rubén Martínez-Barricarte
Published: 202510.1038/s41435-025-00368-w
Abstract
Actin-Related Protein Complex 1B (ARPC1B) is a subunit of the ARP2/3 complex that is predominately expressed in hematopoietic cells and is involved in the regulation of actin polymerization. ARPC1B deficiency leads to combined immunodeficiency (CID)…
Preview only. Read the full abstract at the source