The Radiological Manifestations of Phagocytic Primary Immunodeficiencies in Children
-
Mitra Khalili
,
Zahra Chavoshzadeh
,
Sepideh Darougar
,
Mahboubeh Mansouri
,
Narges Eslami
,
Delara Babaie
,
Mehrnaz Mesdaghi
,
Abdollah Karimi
,
Shahnaz Armin
,
Alireza Fahimzad
,
Roxana Mansour Ghanaei
,
Sedigheh Rafiee Tabatabaie
,
Fatemeh Akrami
Abstract
Primary immunodeficiencies are a diverse group of rare genetic disorders, among which phagocytic dysfunction impairs neutrophil function in a wide range of inherited disorders. Due to the heterogeneity of the disorders a multidisciplinary approach is often required for early diagnosis and initiation of appropriate treatments. The aim of this study was to evaluate the imaging findings in children admitted with phagocytic primary immunodeficiencies.
Thirty-five children who fulfilled the inclusion criteria for phagocytic dysfunction were enrolled in this study. The patients were under close observation and monitoring from January 2011 until data locking in December 2017. The diagnosis of phagocytic immunodeficiency was confirmed by the patient’s clinical course, presentation features, and laboratory data.
Among the 35 patients studied, the most frequent condition was chronic granulomatous disease (CGD) (23 patients), followed by different types of neutropenia (8 patients) and Job’s syndrome (4 patients). Mediastinal and hilar lymphadenopathies and consolidation were the most frequent presentations. There was a significant relationship between mediastinal/hilar lymphadenopathies and fungal infections. A meaningful relationship was also found between pulmonary nodules without halo signs in patients with concomitant tuberculosis and fungal infections. A significant correlation was found between CGD, pulmonary fibrotic changes, and mediastinal lymphadenopathies.
The most frequent radiological manifestations in children included mediastinal and hilar consolidations. Physicians’ awareness of the radiological and clinical manifestations of these inherited diseases may be helpful in the early diagnosis and timely initiation of specific prophylaxis measures to prevent infections and also to initiate hematopoietic stem cell transplantation as the curative management modality.
2. Mirzaee AZ, Darougar S, Chavoshzadeh Z, Mesdaghi M, Mansouri M, Babaie D, et al. Registry of clinical data and laboratory findings in 80 patients with primary immunodeficiencies in mofid children hospital. J Comprehensive Ped. 2018;9(3).
3. Babaie D, Atashpar S, Chavoshzadeh Z, Armin S, Mesdaghi M, Fahimzad A, et al. Surveillance of primary immunodeficiency disorders in mofid children's Hospital: A 10-year retrospective experience. Arch Ped Infect Dis. 2017;5(4).
4. Nonas S. Pulmonary manifestations of primary immunodeficiency disorders. Immunol Allergy Clin. 2015;35(4):753-66.
5. Brown J, Baxendale H, Floto R. 12 Immunodeficiencies associated with bronchiectasis. Europ Res Monograph. 2011(52):178.
6. Li A, Sonnappa S, Lex C, Wong E, Zacharasiewicz A, Bush A, et al. Non-CF bronchiectasis: does knowing the aetiology lead to changes in management? Europ Resp J. 2005;26(1):8-14.
7. Khanna G, Kao SC, Kirby P, Sato Y. Imaging of chronic granulomatous disease in children. Radiographics. 2005;25(5):1183-95.
8. Buckley RH. Pulmonary complications of primary immunodeficiencies. Paed Resp Rev. 2004;5:S225-S33.
9. Andrews T, Sullivan KE. Infections in patients with inherited defects in phagocytic function. Clin Microbiol Rev. 2003;16(4):597-621.
10. Yao Q, Zhou Q-h, Shen Q-l, Qiao Z-w, Wang X-c, Hu X-h. Imaging findings of pulmonary manifestations of chronic granulomatous disease in a large single center from Shanghai, China (1999–2018). Sci Reports. 2020;10(1):1-10.
11. Kashani P, Farras Roca L, Manson D. Radiographic features of patients with chronic granulomatous disease. LymphoSign J. 2020;7(2):66-80.
12. Antachopoulos C, Walsh TJ, Roilides E. Fungal infections in primary immunodeficiencies. Europ J Pediatrics. 2007;166(11):1099-117.
13. Almyroudis N, Holland S, Segal B. Invasive aspergillosis in primary immunodeficiencies. Med Mycology. 2005;43(Supplement_1):S247-S59.
14. Carneiro-Sampaio M, Coutinho A. Immunity to microbes: lessons from primary immunodeficiencies. Infect immunity. 2007;75(4):1545-55.
15. Antachopoulos C. Invasive fungal infections in congenital immunodeficiencies. Clinmicrobiology Infect. 2010;16(9):1335-42.
16. Gharib A, Gupta S. Skeletal and joint manifestations of primary immunodeficiency diseases. SOJ Immunol. 2016;4(1):1-13.
17. Melis D, Casa RD, Balivo F, Minopoli G, Rossi A, Salerno M, et al. Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. Italian J Pediatrics. 2014;40(1):1-5.
18. Marsili M, Lougaris V, Lucantoni M, Di Marzio D, Baronio M, Vitali M, et al. Successful anti-TNF-α treatment in a girl with LAD-1 disease and autoimmune manifestations. J Clin Immunol. 2014;34(7):788-91.
19. Azad FJ, Ardalan M, Rafati AH, Sotoudeh S, Pourpak Z. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome. J Infect Developing Countries. 2010;4(03):175-8.
20. Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, et al. Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Clin Immunol. 2010;30(2):308-13.
21. Shigemura T, Agematsu K, Yamazaki T, Eriko K, Yasuda G, Nishimura K, et al. Femoral osteomyelitis due to Cladophialophora arxii in a patient with chronic granulomatous disease. Infection. 2009;37(5):469-73.
22. Dotis J, Pana ZD, Roilides E. Non‐Aspergillus fungal infections in chronic granulomatous disease. Mycoses. 2013;56(4):449-62.
23. Campos M, Rocha G, Cordeiro A, Lemos S, Paiva A, Silva I, et al. Serratia osteomyelitis and chronic granulomatous disease. Acta Médica Portuguesa. 2011;24(3):449-52.
24. Kawai T, Kusakabe H, Seki A, Kobayashi S, Onodera M. Osteomyelitis due to trimethoprim/sulfamethoxazole-resistant Edwardsiella tarda infection in a patient with X-linked chronic granulomatous disease. Infection. 2011;39(2):171-3.
25. Salvator H, Mahlaoui N, Catherinot E, Rivaud E, Pilmis B, Borie R, et al. Pulmonary manifestations in adult patients with chronic granulomatous disease. European Respiratory J. 2015;45(6):1613-23.
26. Lee M, Lee MS, Lee JS, Ko SY, Jeong SY. Spectrum of imaging findings of chronic granulomatous disease: a single center experience. Diagnostic and Interventional Radiology. 2017;23(6):472.
27. Godoy MC, Vos PM, Cooperberg PL, Lydell CP, Phillips P, Müller NL. Chest radiographic and CT manifestations of chronic granulomatous disease in adults. Am J Roentgenol. 2008;191(5):1570-5.
| Files | ||
| Issue | Vol 22 No 4 (2023) | |
| Section | Brief Communication | |
| DOI | https://doi.org/10.18502/ijaai.v22i4.13612 | |
| Keywords | ||
| Chronic granulomatous disease Lymphadenopathy Phagocytic bactericidal dysfunction | ||
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