Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Jan 17;20(1):6.
doi: 10.1186/s13223-023-00862-8.

Inborn errors of immunity in adulthood

Joanne J F Wang  1 , Arün Dhir  1 , Kyla J Hildebrand  2 , Stuart E Turvey  2 , Robert Schellenberg  1 , Luke Y C Chen  1 , Persia Pourshahnazari  1 , Catherine M Biggs  3   4
Affiliations
Review

Inborn errors of immunity in adulthood

Joanne J F Wang et al. Allergy Asthma Clin Immunol. .

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.

Keywords: Adulthood; Diagnosis; Evaluation; Inborn error of immunity; Primary immunodeficiency.

PubMed Disclaimer

Conflict of interest statement

No conflicts of interest to disclose.

References

    1. Turvey SE, Bonilla FA, Junker AK. Primary immunodeficiency diseases: a practical guide for clinicians. Postgrad Med J. 2009;85(1010):660–666. doi: 10.1136/PGMJ.2009.080630. - DOI - PubMed
    1. Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Human inborn errors of immunity: an expanding universe. Sci Immunol. 2020 doi: 10.1126/SCIIMMUNOL.ABB1662. - DOI - PMC - PubMed
    1. Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013;33(1):1–7. doi: 10.1007/s10875-012-9751-7. - DOI - PubMed
    1. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497–502. doi: 10.1007/s10875-007-9103-1. - DOI - PubMed
    1. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650–1657. doi: 10.1182/BLOOD-2011-09-377945. - DOI - PMC - PubMed

LinkOut - more resources