What’s the connection? Sarcoidosis and combined variable immunodeficiency: A Single center retrospective case series
Keywords:
sarcoidosis, combined variable immunodeficiency, CVID, granulomatous lymphocytic interstitial lung disease, GLILDAbstract
Background and aim: Sarcoidosis is a disorder hallmarked by non-caseating granulomas and can involve multi-organ systems but most frequently affects the lungs, eyes, central nervous system, and skin.1 Combined Variable Immunodeficiency (CVID) is a disorder featuring hypogammaglobulinemia, an inadequate response to vaccination, and a history of recurrent bacterial and viral infections, most commonly pneumonia, sinusitis, and ear infections. 2 CVID can also present with non-caseating granulomas, including in Granulomatous Lymphocytic Interstitial Lung Disease (GLILD), making distinguishing between these conditions challenging. There continues to be a debate about how these two conditions are related and what the guidelines should be related to checking quantitative immunoglobulins among those suspected of having sarcoidosis.
Methods: This single-center retrospective review was performed at a large midwestern academic center with a large sarcoidosis referral base using available data from the past seventeen years. ICD-9 and ICD-10 codes for CVID and Sarcoidosis were used to identify individuals in billing for outpatient encounters
Results: A total of 1920 cases of sarcoidosis and 231 cases of CVID were identified, with eight individuals identified as having both CVID and sarcoidosis diagnoses coded in the same outpatient clinical encounter, which is just 0.042% of the total number of sarcoidosis cases.
Conclusions: In place of universal quantitative immunoglobulin screening among those with sarcoidosis, which has additional costs and leads to further challenges with other causes of hypogammaglobulinemia other than CVID, this review points out essential patient features where testing should instead be focused. Identified patient features based on this review that should lead to quantitative immunoglobulin testing include a personal history of recurrent sinopulmonary infections, individual or family history of autoimmune conditions, computed tomography (CT) chest with non-traction-related bronchiectasis, and middle to lower lobe pattern of lung involvement on CT.
References
1. Allaoui A, Moudatir M, Echchilal K, Alaoui FZ, Elkabli H. A misleading diagnosis of sarcoidosis in an older woman. Eur J Case Rep Intern Med. 2017;4(4):000463. doi:10.12890/2017_000463
2. Friedmann D, Unger S, Keller B, et al. Bronchoalveolar lavage fluid reflects a TH1-CD21low B-cell interaction in CVID-related interstitial lung disease. Front Immunol. 2020;11:616832. doi:10.3389/fimmu.2020.616832
3. Gupta S, Pattanaik D, Krishnaswamy G. Common variable immune deficiency and associated complications. Chest. 2019;156(3):579–93. doi:10.1016/j.chest.2019.05.009
4. Buso H, Discardi C, Bez P, et al. Sarcoidosis versus granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency: a comparative review. Biomedicines. 2024;12(7):1503. doi:10.3390/biomedicines12071503
5. van Stigt AC, von der Thüsen JH, Mustafa DAM, et al. Granulomas in common variable immunodeficiency display different histopathological features compared to other granulomatous diseases. J Clin Immunol. [INCOMPLETE]
6. Scarpa R, Cinetto F, Milito C, et al. Common and uncommon CT findings in CVID-related GL-ILD: correlations with clinical parameters, therapeutic decisions and potential implications in the differential diagnosis. J Clin Immunol. 2023;43(8):1903–15. doi:10.1007/s10875-023-01552-1
7. Bouvry D, Mouthon L, Brillet PY, et al. Granulomatosis-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis. Eur Respir J. 2013;41(1):115–22. doi:10.1183/09031936.00189011
8. Prasse A, Kayser G, Warnatz K. Common variable immunodeficiency-associated granulomatous and interstitial lung disease. Curr Opin Pulm Med. 2013;19(5):503–9. doi:10.1097/MCP.0b013e3283642c47
9. Papanikolaou I, Shigemitsu H, Afthinos A. Immune status in sarcoidosis: one size does not fit all. Monaldi Arch Chest Dis. 2020;90(3):1306. doi:10.4081/monaldi.2020.1306
10. Perlman DM, Sudheendra MT, Racilla E, Allen TL, Joshi A, Bhargava M. Granulomatous-lymphocytic interstitial lung disease mimicking sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 2021;38(3):e2021025. doi:10.36141/svdld.v38i3.11114
11. Shanks AM, Alluri R, Herriot R, Dempsey O. Misdiagnosis of common variable immune deficiency. BMJ Case Rep. 2014;2014:bcr2013202806. doi:10.1136/bcr-2013-202806
12. Gerke AK, Judson MA, Cozier YC, Culver DA, Koth LL. Disease burden and variability in sarcoidosis. Ann Am Thorac Soc. 2017;14(Suppl 6):S421. doi:10.1513/AnnalsATS.201707-564OT
Downloads
How to Cite
Issue
Section
License
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Transfer of Copyright and Permission to Reproduce Parts of Published Papers.
Authors retain the copyright for their published work. No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
