Primary immunodeficiency syndromes encompass a wide variety of inborn and acquired cellular and signaling defects. They are predominantly diagnosed during childhood but can present later into young adulthood depending on the severity, impact, and access to healthcare. Early clues to diagnosis include atypical and severe or recurrent presentations to common pathogens, vaccine failure, and immune lab abnormalities. Despite seemingly obvious characteristics, diagnosis is frequently delayed by months to years at a cost of greatly increased morbidity. Here we present a case of a challenging hyper IgM syndrome diagnosed after seven months and multiple hospitalizations for unique multisystem pathologies.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.