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Inborn errors of immunity in adulthood Wang, Joanne J. F.; Dhir, Arun; Hildebrand, Kyla J.; Turvey, Stuart E.; Schellenberg, Robert; Chen, Luke Y. C.; Pourshahnazari, Persia; Biggs, Catherine M.

Abstract

Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are accounted for by adults. Delayed diagnosis, late symptom onset, and IEI phenocopies can all lead to adult-onset recognition of IEIs. Lack of awareness regarding the diversity of IEI manifestations in adults contributes to diagnostic and treatment delays. Prompt referral to immunology is critical so that patients can receive a precise molecular diagnosis and targeted therapy when available. This article serves as a primer on IEIs in adulthood, highlighting the pathophysiology, epidemiology and clinical features. We present clinical vignettes of three key IEIs to assist clinicians in building illness scripts on their presentations. We provide a framework for the laboratory evaluation of IEIs and their initial treatment, with the aim of improving recognition and management of these conditions.

Item Metadata

Title
Inborn errors of immunity in adulthood
Creator
Wang, Joanne J. F.; Dhir, Arun; Hildebrand, Kyla J.; Turvey, Stuart E.; Schellenberg, Robert; Chen, Luke Y. C.; Pourshahnazari, Persia; Biggs, Catherine M.
Contributor
Children's Hospital (Vancouver, B.C.). Research Institute
Publisher
BioMed Central
Date Issued
2024-01-17
Description
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are accounted for by adults. Delayed diagnosis, late symptom onset, and IEI phenocopies can all lead to adult-onset recognition of IEIs. Lack of awareness regarding the diversity of IEI manifestations in adults contributes to diagnostic and treatment delays. Prompt referral to immunology is critical so that patients can receive a precise molecular diagnosis and targeted therapy when available. This article serves as a primer on IEIs in adulthood, highlighting the pathophysiology, epidemiology and clinical features. We present clinical vignettes of three key IEIs to assist clinicians in building illness scripts on their presentations. We provide a framework for the laboratory evaluation of IEIs and their initial treatment, with the aim of improving recognition and management of these conditions.
Subject
Inborn error of immunity; Primary immunodeficiency; Adulthood; Evaluation; Diagnosis
Genre
Article
Type
Text
Language
eng
Date Available
2024-01-18
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0438745
URI
http://hdl.handle.net/2429/87319
Affiliation
Medicine, Faculty of; Medicine, Department of; Pediatrics, Department of
Citation
Allergy, Asthma & Clinical Immunology. 2024 Jan 17;20(1):6
Publisher DOI
10.1186/s13223-023-00862-8
Peer Review Status
Reviewed
Scholarly Level
Faculty; Researcher; Other
Copyright Holder
The Author(s)
Rights URI
http://creativecommons.org/licenses/by/4.0/
Aggregated Source Repository
DSpace

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Rights

Attribution 4.0 International (CC BY 4.0)