Pulmonary Disease Burden in Primary Immune Deficiency Disorders: Data from USIDNET Registry
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Pulmonary manifestations are common in patients with primary immunodeficiency disorders (PIDs) but the prevalence, specific diseases, and their patterns are not well characterized.
We conducted a retrospective analysis of pulmonary diseases reported in the database of the United States Immunodeficiency Network (USIDNET), a program of the Immune Deficiency Foundation. PIDs were categorized into 10 groups and their demographics, pulmonary diagnoses and procedures, infections, prophylaxis regimens, and laboratory findings were analyzed.
A total of 1937 patients with various PIDs (39.3% of total patients, 49.6% male, average age 37.9 years (SD = 22.4 years)) were noted to have a pulmonary disease comorbidity. Pulmonary diseases were categorized into broad categories: airway (86.8%), parenchymal (18.5%), pleural (4.6%), vascular (4.3%), and other (13.9%) disorders. Common variable immune deficiency (CVID) accounted for almost half of PIDs associated with airway, parenchymal, and other pulmonary disorders. Pulmonary procedures performed in 392 patients were mostly diagnostic (77.3%) or therapeutic (16.3%). These patients were receiving a wide variety of treatments, which included immunoglobulin replacement (82.1%), immunosuppressive (32.2%), anti-inflammatory (12.7%), biologic (9.3%), and cytokine (7.6%)-based therapies. Prophylactic therapy was being given with antibiotics (18.1%), antifungal (3.3%), and antiviral (2.2%) medications, and 7.1% of patients were on long-term oxygen therapy due to advanced lung disease.
Pulmonary manifestations are common in individuals with PID, but long-term pulmonary outcomes are not well known in this group of patients. Further longitudinal follow-up will help to define long-term prognosis of respiratory comorbidities and optimal treatment modalities.
KeywordsLung disease immune deficiency airway infection bronchiectasis pulmonary immunity
The authors would like to thank the U.S. Immunodeficiency Network (USIDNET), a program of the Immune Deficiency Foundation (IDF) that is supported by a cooperative agreement, U24AI86837, from the National Institute of Allergy and Infectious Diseases (NIAID).
LG and KP conceived this study. KP reached out to USIDNET for collecting anonymized subject data from the USIDNET patient registry. LG and KP also analyzed the data, wrote and edited the manuscript. MP, YC, and LP were involved in data collection and analysis and were also involved in writing the manuscript. RLF and EKG contributed to the data included in the USIDNET database.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflicts of interest.
- 18.Eden E, Choate R, Barker A, Addrizzo-Harris D, Aksamit TR, Daley CL, et al. The clinical features of bronchiectasis associated with alpha-1 antitrypsin deficiency, common variable immunodeficiency and primary ciliary dyskinesia--results from the U.S. bronchiectasis research registry. Chronic Obstr Pulm Dis. 2019;6(2):145–53.PubMedPubMedCentralGoogle Scholar
- 19.Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, et al. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. Orphanet J Rare Dis. 2018;13(1):201.PubMedPubMedCentralCrossRefGoogle Scholar
- 27.Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, et al. Loss-of-function nuclear factor kappaB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. J Allergy Clin Immunol. 2018;142(4):1285–96.PubMedPubMedCentralCrossRefGoogle Scholar
- 44.Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, et al. British Lung Foundation/United Kingdom primary immunodeficiency network consensus statement on the definition, diagnosis, and management of granulomatous-lymphocytic interstitial lung disease in common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2017;5(4):938–45.PubMedCrossRefPubMedCentralGoogle Scholar
- 45.Jolles S, Sánchez-Ramón S, Quinti I, Soler-Palacín P, Agostini C, Florkin B, et al. Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group. Clin Exp Immunol. 2017;190(2):226–34.PubMedPubMedCentralCrossRefGoogle Scholar