Skip to main content
SpringerLink
Log in

Management of Cellular Immunodeficiencies

  • Chapter
  • First Online:
Cellular Primary Immunodeficiencies

Part of the book series: Rare Diseases of the Immune System ((RDIS))

  • 711 Accesses

Abstract

In this chapter, we will highlight the general strategies and tools in the clinical management of primary cellular immunodeficiency with predominant T cell and/or B cell dysfunction. Hematopoietic stem cell transplantation (HSCT) represents a curative treatment in certain patients with cellular immunodeficiency; enzyme replacement therapy and gene therapy may be further options in very specific settings. Apart from disease-specific treatments, antibiotic therapy and prophylaxis and replacement of immunoglobulin G are therefore the mainstay of treatment, also after HSCT. The monitoring of long-term consequences of infections on airways architecture and function is pivotal in cellular immunodeficiency. Moreover, the management of immune-mediated complications, encompassing a range of clinical issues as interstitial lung diseases, systemic granulomatosis, immune dysregulation, autoimmune cytopenia, and enteropathy, requires a multidisciplinary approach. Finally, a proper management of T and B cellular immune deficiencies allows an early detection of lymphoproliferative complications and cancer.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Bazregari S, Azizi G, Tavakol M, Asgardoon MH, Kiaee F, Tavakolinia N et al (2017) Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency. Cent-Eur J Immunol 42(4):336–341

    Article  CAS  Google Scholar 

  2. Picard C, Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME et al (2015) Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol 35(8):696–726

    Article  CAS  Google Scholar 

  3. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM (2015) Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primer 1:15061

    Article  Google Scholar 

  4. Latour S, Fischer A (2019) Signaling pathways involved in the T-cell-mediated immunity against Epstein-Barr virus: Lessons from genetic diseases. Immunol Rev 291(1):174–189

    Article  CAS  Google Scholar 

  5. Gernez Y, Baker MG, Maglione PJ (2018) Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy. Transfusion (Paris) 58(Suppl 3):3056–3064

    Article  CAS  Google Scholar 

  6. Rapamycin selectively expands CD4+CD25+FoxP3+ regulatory T cells - PubMed [Internet]. [cited 2020 Oct 19]. Available from: https://pubmed.ncbi.nlm.nih.gov/15746082/

  7. Imbach P, Crowther M (2011) Thrombopoietin-receptor agonists for primary immune thrombocytopenia. N Engl J Med 365(8):734–741

    Article  CAS  Google Scholar 

  8. Gudiol C, Garcia-Vidal C, Arnan M, Sánchez-Ortega I, Patiño B, Duarte R et al (2014) Etiology, clinical features and outcomes of pre-engraftment and post-engraftment bloodstream infection in hematopoietic SCT recipients. Bone Marrow Transplant 49(6):824–830

    Article  CAS  Google Scholar 

  9. Cho S-Y, Lee H-J, Lee D-G (2018) Infectious complications after hematopoietic stem cell transplantation: current status and future perspectives in Korea. Korean J Intern Med 33(2):256–276

    Article  CAS  Google Scholar 

  10. Boeckh M, Geballe AP (2011) Cytomegalovirus: pathogen, paradigm, and puzzle. J Clin Invest 121(5):1673–1680

    Article  CAS  Google Scholar 

  11. Marty FM, Ljungman P, Chemaly RF, Maertens J, Dadwal SS, Duarte RF et al (2017) Letermovir prophylaxis for cytomegalovirus in hematopoietic-cell transplantation. N Engl J Med 377(25):2433–2444

    Article  CAS  Google Scholar 

  12. Cantoni N, Hirsch HH, Khanna N, Gerull S, Buser A, Bucher C et al (2010) Evidence for a bidirectional relationship between cytomegalovirus replication and acute graft-versus-host disease. Biol Blood Marrow Transplant J Am Soc Blood Marrow Transplant 16(9):1309–1314

    Article  Google Scholar 

  13. Marchesi F, Pimpinelli F, Ensoli F, Mengarelli A (2018) Cytomegalovirus infection in hematologic malignancy settings other than the allogeneic transplant. Hematol Oncol 36(2):381–391

    Article  CAS  Google Scholar 

  14. Kim DH, Kumar D, Messner HA, Minden M, Gupta V, Kuruvilla J et al (2008) Clinical efficacy of prophylactic strategy of long-term low-dose acyclovir for Varicella-Zoster virus infection after allogeneic peripheral blood stem cell transplantation. Clin Transpl 22(6):770–779

    Article  Google Scholar 

  15. Modern management of primary B-cell immunodeficiencies - PubMed [Internet]. [cited 2020 Oct 30]. Available from: https://pubmed.ncbi.nlm.nih.gov/22122788/

  16. Common Variable Immune Deficiency: Dissection of the Variable [Internet]. [cited 2020 Oct 30]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435035/

  17. Chapel HM, Spickett GP, Ericson D, Engl W, Eibl MM, Bjorkander J (2000) The comparison of the efficacy and safety of intravenous versus subcutaneous immunoglobulin replacement therapy. J Clin Immunol 20(2):94–100

    Article  CAS  Google Scholar 

  18. Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT et al (2016) International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 4(1):38–59

    Article  Google Scholar 

  19. Busse PJ, Razvi S, Cunningham-Rundles C (2002) Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol 109(6):1001–1004

    Article  CAS  Google Scholar 

  20. The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation [Internet]. [cited 2020 Oct 30]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096054/

  21. Cole PJ (1986) Inflammation: a two-edged sword--the model of bronchiectasis. Eur J Respir Dis Suppl 147:6–15

    CAS  PubMed  Google Scholar 

  22. Mooney D, Edgar D, Einarsson G, Downey D, Elborn S, Tunney M (2017) Chronic lung disease in common variable immune deficiency (CVID): a pathophysiological role for microbial and non-B cell immune factors. Crit Rev Microbiol 43(4):508–519

    Article  CAS  Google Scholar 

  23. Primary immune deficiency diseases as unrecognized causes of chronic respiratory disease - PubMed [Internet]. [cited 2020 Oct 31]. Available from: https://pubmed.ncbi.nlm.nih.gov/29229095/

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

    Article  CAS  Google Scholar 

  25. Schussler E, Beasley MB, Maglione PJ (2016) Lung disease in primary antibody deficiencies. J Allergy Clin Immunol Pract 4(6):1039–1052

    Article  Google Scholar 

  26. Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P et al (2017) 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 5(4):938–945

    Article  Google Scholar 

  27. Hartono S, Motosue MS, Khan S, Rodriguez V, Iyer VN, Divekar R et al (2017) Predictors of granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency. Ann Allergy Asthma Immunol Off Publ Am Coll Allergy Asthma Immunol 118(5):614–620

    Article  Google Scholar 

  28. Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID)—PubMed [Internet]. [cited 2020 Oct 31]. Available from: https://pubmed.ncbi.nlm.nih.gov/22930256/

  29. Bucciol G, Petrone A, Putti MC. Efficacy of mycophenolate on lung disease and autoimmunity in children with immunodeficiency. Pediatr Pulmonol 2017;52(10):E73–E76. [cited 2020 Oct 31]

    Google Scholar 

  30. Deyà-Martínez A, Esteve-Solé A, Vélez-Tirado N, Celis V, Costa J, Cols M et al (2018) Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol 29(4):425–432

    Article  Google Scholar 

  31. Ng J, Wright K, Alvarez M, Hunninghake GM, Wesemann DR (2019) Rituximab monotherapy for common variable immune deficiency-associated granulomatous-lymphocytic interstitial lung disease. Chest 155(5):e117–e121

    Article  Google Scholar 

  32. Notarangelo LD (2009) Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematol Am Soc Hematol Educ Program:139–143

    Google Scholar 

  33. Gastrointestinal Disease in Patients with Common Variable Immunodeficiency: A Retrospective Observational Study | Journal of the Canadian Association of Gastroenterology | Oxford Academic [Internet]. [cited 2020 Oct 31]. Available from: https://academic.oup.com/jcag/article/3/4/162/5355634

  34. Malesza IJ, Malesza M, Krela-Kaźmierczak I, Zielińska A, Souto EB, Dobrowolska A et al (2020) Primary humoral immune deficiencies: overlooked mimickers of chronic immune-mediated gastrointestinal diseases in adults. Int J Mol Sci [Internet] 21(15) [cited 2020 Oct 31]

    Google Scholar 

  35. Chua I, Standish R, Lear S, Harbord M, Eren E, Raeiszadeh M et al (2007) Anti-tumour necrosis factor-α therapy for severe enteropathy in patients with common variable immunodeficiency (CVID). Clin Exp Immunol 150(2):306–311

    Article  CAS  Google Scholar 

  36. Quinti I, Agostini C, Tabolli S, Brunetti G, Cinetto F, Pecoraro A et al (2012) Malignancies are the major cause of death in patients with adult onset common variable immunodeficiency. Blood 120(9):1953–1954

    Article  CAS  Google Scholar 

  37. Latour S, Winter S (2018) Inherited immunodeficiencies with high predisposition to Epstein-Barr virus-driven lymphoproliferative diseases. Front Immunol 9:1103

    Article  Google Scholar 

  38. Truong T (2013) The overlap of bronchiectasis and immunodeficiency with asthma. Immunol Allergy Clin N Am 33(1):61–78

    Article  Google Scholar 

  39. Pachlopnik Schmid J, Güngör T, Seger R (2014) Modern management of primary T-cell immunodeficiencies. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol. 25(4):300–313

    Article  Google Scholar 

  40. Comparative study of subcutaneous versus intravenous IgG replacement therapy in pediatric patients with primary immunodeficiency diseases: a multicenter study in Argentina | SpringerLink [Internet]. [cited 2020 Oct 16]. Available from: https://link.springer.com/article/10.1007%2Fs10875-013-9916-z

  41. Pulvirenti F, Cinetto F, Pecoraro A, Carrabba M, Crescenzi L, Neri R et al (2019) Health-related quality of life in patients with CVID Under different schedules of immunoglobulin administration: prospective multicenter study. J Clin Immunol 39(2):159–170

    Article  CAS  Google Scholar 

  42. Chapel H, Gardulf A (2013) Subcutaneous immunoglobulin replacement therapy: the European experience. Curr Opin Allergy Clin Immunol 13(6):623–629

    Article  CAS  Google Scholar 

  43. Milito C, Pulvirenti F, Cinetto F, Lougaris V, Soresina A, Pecoraro A et al (2019) Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patients with primary antibody deficiencies. J Allergy Clin Immunol 144(2):584–593. e7

    Article  CAS  Google Scholar 

  44. Cavaliere FM, Graziani S, Duca ED, Bilotta C, Sgrulletti M, Quinti I et al IgM, IgA and IgG response to conjugate polysaccharides in children with recurrent respiratory infections. Scand J Immunol:e12955

    Google Scholar 

  45. Pulvirenti F, Milito C, Cavaliere FM, Mezzaroma I, Cinetto F, Quinti I (2020) IGA Antibody induced by immunization with pneumococcal polysaccharides is a prognostic tool in common variable immune deficiencies. Front Immunol [Internet] 24. [cited 2020 Nov 1]:11

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medicine—DIMED, University of Padua, Immunologic and Respiratory Rare Diseases Referral Center, Internal Medicine 1, Ca’ Foncello Hospital, Treviso, Italy

    Carlo Agostini & Alessandro Dell’Edera

Authors
  1. Carlo Agostini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alessandro Dell’Edera
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Carlo Agostini .

Editor information

Editors and Affiliations

  1. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Mario Milco D'Elios

  2. Department of Life Sciences, University of Siena, Siena, Italy

    Cosima Tatiana Baldari

  3. Department of Experimental and Clinical Medicine, University of Florence, Firenze, Florence, Italy

    Francesco Annunziato

Rights and permissions

Reprints and permissions

Copyright information

© 2021 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Agostini, C., Dell’Edera, A. (2021). Management of Cellular Immunodeficiencies. In: D'Elios, M.M., Baldari, C.T., Annunziato, F. (eds) Cellular Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-70107-9_17

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-70107-9_17

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-70106-2

  • Online ISBN: 978-3-030-70107-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation