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In humans, the ARPC5 subunit of the Arp2\/3 complex is encoded by two paralogous genes (ARPC5 and ARPC5L) with 67% identity. Through whole-exome sequencing, we identified a biallelic ARPC5 frameshift variant in a female child who presented with recurrent infections, multiple congenital anomalies, diarrhea and thrombocytopenia, and suffered early demise from sepsis. Her consanguineous parents also had a previous child who died with similar clinical features. Using CRISPR\/Cas9-mediated approaches, we demonstrate that loss of ARPC5 affects actin cytoskeleton organization and function in vitro. Homozygous Arpc5\u2212\/\u2212 mice do not survive past embryonic day 9 owing to developmental defects, including loss of the second pharyngeal arch, which contributes to craniofacial and heart development. Our results indicate that ARPC5 is important for both prenatal development and postnatal immune signaling, in a non-redundant manner with ARPC5L. Moreover, our observations add ARPC5 to the list of genes that should be considered when patients present with syndromic early-onset immunodeficiency, particularly if recessive inheritance is suspected.<\/jats:p>","DOI":"10.1242\/dmm.050145","type":"journal-article","created":{"date-parts":[[2023,6,29]],"date-time":"2023-06-29T08:04:38Z","timestamp":1688025878000},"source":"Crossref","is-referenced-by-count":22,"title":["ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5700-7364","authenticated-orcid":false,"given":"Elena","family":"Sindram","sequence":"first","affiliation":[{"name":"Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center 1 , Faculty of Medicine , , Breisacher Stra\u00dfe 115, 79106 Freiburg , Germany"},{"name":"University of Freiburg 1 , Faculty of Medicine , , Breisacher Stra\u00dfe 115, 79106 Freiburg , 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