Caring for Children with ARPC1B Deficiency Syndrome

Abstract

ARPC1B Deficiency Syndrome is a rare genetic disorder recently characterized as an autosomal recessive condition linked to mutations in the ARPC1B gene. This gene encodes a subunit of the actin-related protein 2/3 (Arp2/3) complex, impacting the actin cytoskeleton and resulting in a variety of symptoms and severities. The syndrome primarily presents as a combined immune deficiency, leading to recurrent infections, allergic reactions, and inflammatory conditions. Due to its rarity and recent discovery, the exact mechanism and full spectrum of severity remain unknown. This paper aims to provide comprehensive nursing management for children with ARPC1B Deficiency Syndrome, focusing on assessment, monitoring, intervention, and support to address physical, developmental, and psychosocial needs. The approach includes monitoring growth and developmental milestones, immune function, and emotional well-being, providing education on infection prevention, developmental therapies, and genetic counseling to families. This strategy is to improve health outcomes and enhance quality of life by offering ongoing support and education.