The lung in inborn errors of immunity

Authors

Sonia Restrepo-Gualteros, School of Medicine, Universidad Nacional de Colombia, Bogotá, Colombia.
Gustavo Nino, Division of Pulmonary and Sleep Medicine, Children's National Hospital, George Washington University, Washington, District of Columbia, USA.
Maria J. Gutierrez, Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Document Type

Journal Article

Publication Date

9-19-2024

Journal

Pediatric pulmonology

DOI

10.1002/ppul.27258

Keywords

bronchiectasis; immune dysregulation; inborn errors of immunity; interstitial lung disease; lung infections; primary immunodeficiencies

Abstract

The lungs are integral to immune defense, and inborn errors of immunity (IEI) often manifest as lung disease. Lung complications of IEI can involve the airways, alveolar spaces, interstitium, vasculature, and pleura. Accurate identification of these lung disease patterns requires a thorough clinical history, physical examination, and high-resolution computed tomography (HRCT), as lung imaging patterns guide further respiratory and immunological evaluations. Respiratory assessment may also include pulmonary function tests, bronchoscopy with bronchoalveolar lavage, and, in some cases, lung biopsy. Additionally, molecular diagnosis of underlying immune defects, typically through comprehensive clinical phenotyping, functional immune studies, and genetic testing, is crucial for informing patient management and guiding targeted therapies. Importantly, given the complexity of IEI, a multidisciplinary approach is necessary. Furthermore, ongoing research is required to refine therapies and improve outcomes for lung complications.

APA Citation

Restrepo-Gualteros, Sonia; Nino, Gustavo; and Gutierrez, Maria J., "The lung in inborn errors of immunity" (2024). GW Authored Works. Paper 5623.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/5623

Department

Pediatrics