Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency

Česká verzia

Authors: P. Králíčková ¹; Š. Kubcová ¹; E. Kočová ²; V. Bartoš ³; O. Souček ¹ ; P. Rozsíval ⁴; Hubert Vaníček ⁴; I. Krčmová ¹; B. Ravčuková ⁵; H. Grombiříková ⁵; T. Freiberger ^5,6
Authors place of work: Ústav klinické imunologie a alergologie, Fakultní nemocnice Hradec Králové a Univerzita Karlova v Praze, Lékařská fakulta v Hradci Králové ¹; Radiologická klinika, Fakultní nemocnice Hradec Králové a Univerzita Karlova v Praze, Lékařská fakulta v Hradci Králové ²; Plicní klinika, Fakultní nemocnice Hradec Králové a Univerzita Karlova v Praze, Lékařská fakulta v Hradci Králové ³; Dětská klinika, Fakultní nemocnice Hradec Králové a Univerzita Karlova v Praze, Lékařská fakulta v Hradci Králové ⁴; Centrum kardiovaskulární a transplantační chirurgie Brno ⁵; Ústav klinické imunologie a alergologie, Fakultní nemocnice u sv. Anny a Masarykova univerzita v Brně ⁶
Published in the journal: Epidemiol. Mikrobiol. Imunol. 67, 2018, č. 3, s. 142-148
Category: Krátké sdělení

Summary

Common variable immunodeficiency, a heterogeneous group of diseases, represents a clinically relevant form of antibody immunodeficiency. Granulomatous/lymphocytic interstitial lung disease is among the most serious complications.

A case report is presented of a young women with granulomatous/lymphocytic interstitial lung disease and splenomegaly accompanied by pancytopenia. Intravenous rituximab treatment in monotherapy (at a weekly dose of 375 mg/m2 for four consecutive weeks, repeated six months later) not only led to a significant improvement in clinical symptoms but also to positive morphological and functional lung changes, mitigation of pancytopenia, considerable reduction of alkaline phosphatase level, and disappearance of splenic granulomas. The treatment was well tolerated without any side effects.

The case report presented suggests possible efficacy and safety of rituximab monotherapy in patients with a complicated form of common variable immunodeficiency.

KEYWORDS

Rituximab – antibody immunodeficiency – lung disease – treatment

Epidemiol. Mikrobiol. Imunol., 67, 2018, č. 3, s. 142–148

Zdroje

1. Picard C, Gaspar B, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol, 2018;38(1):96–128.

2. 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.

3. Maffucci P, Filion CA, Boisson B, et al. Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Front Immunol, 2016;7:220.

4. Bogaert DJA, Dullaers M, Lambrecht BN, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet, 2016;53(9):575–590.

5. Kainulainen L, Nikoskelainen J, Vuorinen T, et al. Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. Am J Respir Crit Care Med, 1999;159(4):1199–1204.

6. Oksenhendler E, Gérard L, Fieschi C, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis, 2008;46(10):1547–1554.

7. Kralickova P, Mala E, Vokurkova D, et al. Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. Int Arch Allergy Immunol, 2014; 163(1):69–74.

8. Jolles S, Chapel H, Litzman J. When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach. Clin Exp Immunol, 2017;188(3):333–341.

9. Wehr C, Kivioja T, Schmitt C, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood, 2008;111(1):77–85.

10. Sánchez-Ramón S, Radigan L, Yu JE, et al. Memory B cells in common variable immunodeficiency: clinical associations and sex differences. Clin Immunol Orlando Fla, 2008;128(3):314–321.

11. Warnatz K, Wehr C, Dräger R, et al. Expansion of CD19(hi)CD21(lo/neg) B cells in common variable immunodeficiency (CVID) patients with autoimmune cytopenia. Immunobiology, 2002;206(5):502–13.

12. Unger S, Seidl M, van Schouwenburg P, et al. The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency. J Allergy Clin Immunol, 2018;141(2):730–740.

13. Coraglia A, Galassi N, Fernández Romero DS, et al. Common Variable Immunodeficiency and Circulating TFH. J Immunol Res, 2016;2016:4951587.

14. Park J, Munagala I, Xu H, et al. Interferon signature in the blood in inflammatory common variable immune deficiency. PloS One, 2013;8(9):e74893.

15. Cols M, Rahman A, Maglione PJ, et al. Expansion of inflammatory innate lymphoid cells in patients with common variable immune deficiency. J Allergy Clin Immunol, 2016;137(4):1206–1215.

16. Myles A, Gearhart PJ, Cancro MP. Signals that drive T-bet expression in B cells. Cell Immunol, 2017;321:3–7.

17. Boursiquot JN, Gérard L, Malphettes M, et al. Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. J Clin Immunol, 2013;33(1):84–95.

18. Gathmann B, Mahlaoui N, CEREDIH, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol, 2014;134(1):116–126.

19. 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):115–122.

20. Kollert F, Venhoff N, Goldacker S, et al. Bronchoalveolar lavage cytology resembles sarcoidosis in a subgroup of granulomatous CVID. Eur Respir J, 2014;43(3):922–924.

21. Verbsky JW, Routes JM. Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med, 2014;35(3):330–335.

22. Maglione PJ, Overbey JR, Cunningham-Rundles C. Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings. J Allergy Clin Immunol Pract, 2015;3(6):941–950.

23. Hurst JR, Verma N, Lowe D, 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):938–945.

24. Mannina A, Chung JH, Swigris JJ, et al. Clinical Predictors of a Diagnosis of Common Variable Immunodeficiency-related Granulomatous-Lymphocytic Interstitial Lung Disease. Ann Am Thorac Soc, 2016;13(7):1042–1049.

25. Criado E, Sánchez M, Ramírez J, et al. Pulmonary sarcoidosis: typical and atypical manifestations at high-resolution CT with pathologic correlation. Radiogr Rev, 2010;30(6):1567–1586.

26. Gregersen S, Aaløkken TM, Mynarek G, et al. High resolution computed tomography and pulmonary function in common variable immunodeficiency. Respir Med, 2009;103(6):873–880.

27. van de Ven AAJM, van Montfrans JM, Terheggen-Lagro SWJ, et al. A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders. Chest, 2010;138(2):371–379.

28. Detková D, de Gracia J, Lopes-da-Silva S, et al. Common variable immunodeficiency: association between memory B cells and lung diseases. Chest, 2007;131(6):1883–1889.

29. Gregersen S, Aaløkken TM, Mynarek G, et al. Development of pulmonary abnormalities in patients with common variable immunodeficiency: associations with clinical and immunologic factors. Ann Allergy Asthma Immunol, 2010;104(6):503–510.

30. Bondioni MP, Soresina A, Lougaris V, et al. Common variable immunodeficiency: computed tomography evaluation of bronchopulmonary changes including nodular lesions in 40 patients. Correlation with clinical and immunological data. J Comput Assist Tomogr, 2010;34(3):395–401.

31. Touw CML, van de Ven AA, de Jong PA, et al. Detection of pulmonary complications in common variable immunodeficiency. Pediatr Allergy Immunol, 2010;21(5):793–805.

32. Verma N, Grimbacher B, Hurst JR. Lung disease in primary antibody deficiency. Lancet Respir Med, 2015;3(8):651–660.

33. Jolles S, Carne E, Brouns M, et al. FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Exp Immunol, 2017;187(1):138–145.

34. Serra G, Milito C, Mitrevski M, et al. Lung MRI as a possible alternative to CT scan for patients with primary immune deficiencies and increased radiosensitivity. Chest, 2011;140(6):1581–1589.

35. Milito C, Pulvirenti F, Serra G, et al. Lung magnetic resonance imaging with diffusion weighted imaging provides regional structural as well as functional information without radiation exposure in primary antibody deficiencies. J Clin Immunol, 2015;35(5):491–500.

36. Chen Y, Stirling RG, Paul E, et al. Longitudinal decline in lung function in patients with primary immunoglobulin deficiencies. J Allergy Clin Immunol, 2011;127(6):1414–1417.

37. Agondi RC, Barros MT, Rizzo LV, et al. Allergic asthma in patients with common variable immunodeficiency. Allergy, 2010;65(4):510–515.

38. Jolles S, Sánchez-Ramón S, Quinti I, 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):226–234.

39. Olalekan SA, Cao Y, Hamel KM, et al. B cells expressing IFN-γ suppress Treg-cell differentiation and promote autoimmune experimental arthritis. Eur J Immunol, 2015;45(4):988–998.

40. Mélet J, Mulleman D, Goupille P, et al. Rituximab-induced T cell depletion in patients with rheumatoid arthritis: association with clinical response. Arthritis Rheum, 2013;65(11):2783–2790.

41. Verstappen GM, Kroese FGM, Meiners PM, et al. B Cell Depletion Therapy Normalizes Circulating Follicular Th Cells in Primary Sjögren Syndrome. J Rheumatol, 2017;44(1):49–58.

42. Barr TA, Shen P, Brown S, et al. B cell depletion therapy ameliorates autoimmune disease through ablation of IL-6-producing B cells. J Exp Med, 2012;209(5):1001–1010.

43. Varzaneh FN, Keller B, Unger S, et al. Cytokines in common variable immunodeficiency as signs of immune dysregulation and potential therapeutic targets – a review of the current knowledge. J Clin Immunol, 2014;34(5):524–543.

44. Chase NM, Verbsky JW, Hintermeyer MK, et al. Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID). J Clin Immunol, 2013;33(1):30–39.

45. Pathria M, Urbine D, Zumberg MS, Guarderas J. Management of granulomatous lymphocytic interstitial lung disease in a patient with common variable immune deficiency. BMJ Case Rep, 2016; 215624.