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Interstitial lung diseases and granulomatoses associated common variable immunodeficiency.


Authors: Martina Doubková 1;  Mojmír Moulis 2;  Jana Skřičková 1
Authors‘ workplace: Klinika nemocí plicních a tuberkulózy LF MU a FN Brno, pracoviště Bohunice, přednostka prof. MUDr. Jana Skřičková, CSc. 1;  Ústav patologie LF MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Leoš Křen, Ph. D. 2
Published in: Vnitř Lék 2015; 61(2): 119-124
Category: Review

Overview

Common variable immunodeficiency disorder belongs to the most common primary human immunodeficiencies and it is characterized by primary defective immunoglobulin production. Hypogammaglobulinemia manifests in every age, usually in adult people. There is no gender predisposition. The prevalence is 1 : 25 000–1 : 50 000. The ethiopathogenesis of the majority of CVIDs is unknown. The main clinical respiratory symptoms include recurrent respiratory infects, especially bacterial etiology, sinusitis, bronchitis, pneumonia, leading to bronchiectasis and lung fibrosis. Interstitial lung fibrosis and granulomatosis often manifest at diagnosis of CVID and they are negative prognostic factors of the disease.

Key words:
common variable immunodeficiency – granulomatosis – interstitial lung fibrosis


Sources

1. Travis WD, Costabel U, Hansell DM et al. An official American Thoracic Society/European Respiratory Society statement: update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med 2013; 188(6): 733–748.

2. Prasse A, Kayser G, Warnatz K. Common variable immunodeficiency-associated granulomatous and interstitial lung disease. Curr Opin Pulm Med 2013; 19(5): 503–509.

3. Park JH, Levinson AI. Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Immunol 2010; 134(2): 97–103.

4. Chapel H, Lucas M, Lee M et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112(2): 277–286.

5. Boursiquot JN, Lucas M, Patel S 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.

6. Cunningham Rundles C. Human B cell defects in perspective. Immunol Res 2012; 54(1–3): 227–232.

7. Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol 2009; 133(2): 198–207.

8. Bates CA, Ellison MC, Lynch DA et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004; 114(2): 415–421.

9. Fernández Pérez ER. Granulomatous lymphocytic interstitial lung disease. Immunol Allergy Clin North Am 2012; 32(4): 621–632.

10. Bouvry D, Mouthon L, Brillet PY et al. Granulomatous-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis. Eur Respir J 2013; 41(1): 115–122.

11. Grimbacher B, Hutloff A, Schlesier M et al. Homozygous loss of ICOS is associated with adult onset common variable immunodeficiency. Nat Immunol 2003; 4(3): 261–268.

12. Warnatz K, Salzer U, Rizzi M et al. B cell activating factor receptor deficiency is associated with an adult onset antibody deficiency syndrome in humans. Proc Natl Acad Sci USA 2009; 106(33): 13945–13950.

13. van Zelm MC, Reisli I, van der Burg M et al. An antibody deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006; 354(18): 1901–1912.

14. Kanegane H, Agematsu K, Futatani T et al. Novel mutations in a Japanese patient with CD19 deficiency. Genes Immun 2007; 8(8): 663–670.

15. Kuijpers TW, Bende RJ, Baars PA et al. CD20 deficiency in humans results in impaired T cell independent antibody responses. J Clin Invest 2010; 120(1): 214–222.

16. Thiel J, Kimmig L, Salzer U et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol 2012; 129(3): 801–810.

17. van Zelm MC, Smet J, Adams B et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest 2010; 120: 1265–1274.

18. Salzer U, Chapel HM, Webster AD et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005; 37(8): 820–828.

19. Castigli E, Wilson SA, Garibyan L et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005; 37(8): 829–834.

20. Pan Hammarstrom Q, Salzer U, Du L et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007; 39(4): 429–430.

21. Wheat WH, Cool CD, Morimoto Y et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med 2005; 202(4): 479–484.

22. Detkova 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.

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

24. Warnatz K, Denz A, Drager R et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002; 99(5): 1544–1551.

25. Kohler PF, Cook RD, Brown WR et al. Common variable hypogammaglobulinemia with T-cell nodular lymphoid interstitial pneumonitis and B-cell nodular lymphoid hyperplasia: different lymphocyte populations with a similar response to prednisone therapy. J Alllergy Clin Immunol 1982; 70(4): 299–305.

26. Mullighan CG, Fanning GC, Chapel HM et al. TNF and lymphotoxin-alpha polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease. J Immunol 1997; 159(12): 6236–6241.

27. Sutor GCH, Fabel H. Sarcoidosis and common variable immunodeficiency. Respiration 2000; 67(2): 204–208.

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

29. Park JES, Beal I, Dilworth JP et al. The HRCT appearance of granulomatous pulmonary disease in common variable immune deficiency. Eur J Radiol 2005; 54(3): 359–364.

30. Torigian DA, LaRosa DF, Levinson AI et al. Granulomatous-lymphocytic interstitial lung disease associated with common variable immunodeficiency. J Thorac Imaging 2008; 23(3): 162–169.

31. Chua I, Quinti I, Grimbacher H. Lymhoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics. Curr Opin Hematol 2008; 15(4): 368–374.

32. Hatab AZ, Ballas ZK. Caseating granulomatous disease in common variable immunodeficiency treated with infliximab. J Allergy Clin Immunol 2005; 116(5): 1161–1162.

33. Drajna M, Kolek V, Kalabusová B. Koincidencia CVID a sarkoidózy. Kazuistiky v alergologii, pneumologii a ORL 2007; 4(1): 20–24.

34. Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 2005; 5(5): 370–375.

35. 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.

36. Thatayatikom A, Thatayatikom S, White AJ. Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature. Ann Allergy Asthma Immunol 2005; 95(3): 293–300.

37. Buton CM, Milman N, Andersen CB et al. Common variable immune deficienty and lung transplantation. Scand J Infect Dis 2007; 39(4): 362–367.

38. Resnick ES, Moshier EL, Godbold JH et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119(7): 1650–1657.

39. Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997; 127(8 Pt 1): 613–617.

40. Quinti I, Soresina A, Spadalo G et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficieny. J Clin Immunol 2007; 27(3): 308–316.

41. Cunnigham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92(1): 34–48.

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