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proLékaře.cz / Journals / Internal Medicine / 2019 - 2

Primary immunodeficiencies in adults

Czech version

Authors: Jiří Litzman
Authors‘ workplace: Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny v Brně
Published in: Vnitř Lék 2019; 65(2): 109-116
Category:

Overview

In contrast to general opinion, the issue of primary immunodeficiency is far from just a pediatric medicine; a large number of patients with primary immunodefciencies are not only treated, but also diagnosed in adulthood. The most important manifestation of these diseases are serious, unusual or ill-treatable infections. Some primary immune deficiency diseases manifest themselves in adulthood – mainly common variable immunodeficiency (CVID) and Good’s syndrome (hypogammaglobulinemia with thymoma). Due to successful treatment, adults also suffer from illnesses manifestation of which begin in early infancy. Among these, the most common are patients with disorders of antibody production – for example, X-linked agammaglobulinemia or T-cell defect – Di George syndrome (thymus deficiency, morphological heart abnormalities, hypoparathyroidism). Another important group of primary immunodeficiencies are patients with hereditary angioedema (C1-INH deficiency). These patients do not suffer from an increased incidence of infections, but from swelling of the subcutaneous and submucosal tissues.

Keywords:

common variable immunodeficiency – Di George syndrome – hereditary angioedema

Sources

  1. Bonilla FA, Barlan I, Chapel H et al. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract 2016; 4(1): 38–59. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaip.2015.07.025>.

  2. Litzman J, Strenková J. Běžná variabilní imunodeficience – CVID. Nová diagnostická kritéria ICON. Alergie 2016; 18(4): 225–228.

  3. Yazdani R, Hakemi MG, Sherkat R et al. Genetic defects and the role of helper T-cells in the pathogenesis of common variable immunodeficiency. Adv Biomed Res 2014; 3:2. Dostupné z DOI: <http://dx.doi.org/10.4103/2277–9175.124627>.

  4. Bousfiha A, Jeddane L, Picard C et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2018; 38(1): 129–143. Dostupné z DOI: <http://dx.doi.org/10.1007/s10875–017–0465–8>.

  5. Bogaert DJ, 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. Dostupné z DOI: <http://dx.doi.org/10.1136/jmedgenet-2015–103690>.

  6. Azizi G, Abolhassani H, Mahdaviani SA et al. Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. Pediatr Allergy Immunol 2017; 28(5): 478–484. Dostupné z DOI: <http://dx.doi.org/10.1111/pai.12735>.

  7. Verma N, Burns SO, Walker LSK et al. Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations. Clin Exp Immunol 2017; 190(1): 1–7. Dostupné z DOI: <http://dx.doi.org/10.1111/cei.12997>.

  8. Aghamohammadi A, Mohammadi J, Parvaneh N et al. Progression of selective IgA deficiency to common variable immunodeficiency. Int Arch Allergy Immunol 2008; 147(2): 87–92. Dostupné z DOI: <http://dx.doi.org/10.1159/000135694>.

  9. Litzman J, Burianova M, Thon V et al. Progression of selective IgA deficiency to common variable immunodeficiency in a 16 year old boy. Allergol Immunopathol (Madr) 1996; 24(4): 174–176.

  10. Español T, Catala M, Hernandez M et al. Development of a common variable immunodeficiency in IgA-deficient patients. Clin Immunol Immunopathol 1996; 80(3 Pt 1): 333–335.

  11. Jolles S. The variable in common variable immunodeficiency: a disease of complex phenotypes. J Allergy Clin Immunol Pract 2013; 1(6): 545–556. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaip.2013.09.015>.

  12. Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol 2009; 145(6): 709–727. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1365–2141.2009.07669.x>.

  13. Gathmann B, Mahlaoui N, Gérard L et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 2014; 134(1): 116–126. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2013.12.1077>.

  14. Kalha I, Sellin JH. Common variable immunodeficiency and the gastrointestinal tract. Curr Gastroenterol Rep 2004; 6(5): 377–383.

  15. Giorgio F, Principi M, Losurdo G et al. Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg? Nutrients 2015; 7(9): 7486–7504. Dostupné z DOI: <http://dx.doi.org/10.3390/nu7095350>.

  16. Králíčková P, Malá E, Vokurková D et al. Sekundární hunorální imunodeficience u nemocných se systémovým lupus erythematodes. Vnitř Lék 2015; 61(9): 778–784.

  17. Xiao X, Miao Q, Chang C et al. Common variable immunodeficiency and autoimmunity – an inconvenient truth. Autoimmun Rev 2014; 13(8): 858–864. Dostupné z DOI: <http://dx.doi.org/10.1016/j.autrev.2014.04.006>.

  18. Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol 2008; 28(Suppl 1): S42-S45. Dostupné z DOI: <http://dx.doi.org/10.1007/s10875–008–9182–7>.

  19. Doubková M, Moulis M, Skřičková J. Intersticiální plicní procesy a granulomatózy asociované s běžným variabilním imunodeficitem. Vnitř Lék 2015; 61(2): 119–124.

  20. Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol 2009; 133(2): 198–207. Dostupné z DOI: <http://dx.doi.org/10.1016/j.clim.2009.05.001>.

  21. Litzman J, Stikarovska D, Pikulova Z et al. Change in Referral Diagnoses and Diagnostic Delay in Hypogammaglobulinaemic Patients during 28 Years in a Single Referral Centre. Interna Arch Allergy Immunol 2010; 153(1): 95–101.

  22. Dhalla F, Misbah SA. Secondary antibody deficiencies. Curr Opin Allergy Clin Immunol 2015; 15(6): 505–513. Dostupné z DOI: <http://dx.doi.org/10.1097/ACI.0000000000000215>.

  23. Šutová I, Chovancová Z, Litzman J. Nežádoucí účinky imunoglobulinové léčby. Alergie 2018; 20(2): 123–128.

  24. Králíčková P, Slezák R, Vošmik M et al. Goodův syndrom (s thymomem spojená hypogamaglobulinemie) – 2 kazuistiky. Vnitř Lék 2012; 58(2): 154–161.

  25. Jansen A, van Deuren M, Miller J et al. Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective. Clin Immunol 2016; 171: 12–17. Dostupné z DOI: <http://dx.doi.org/10.1016/j.clim.2016.07.025>.

  26. Kelleher P, Misbah SA. What is Good‘s syndrome? Immunological abnormalities in patients with thymoma. J Clin Pathol 2003; 56(1): 12–16.

  27. Plebani A, Soresina A, Rondelli R et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol 2002; 104(3): 221–230.

  28. Winkelstein JA, Marino MC, Lederman HM et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006; 85(4): 193–202. Dostupné z DOI: <http://dx.doi.org/10.1097/01.md.0000229482.27398.ad>.

  29. Litzman J, Sevcikova I, Stikarovska D et al. IgA deficiency in Czech healthy individuals and selected patient groups. Internat Arch Allergy Immunol 2000; 123(2): 177–180. Dostupné z DOI: <http://dx.doi.org/10.1159/000024438>.

  30. Singh K, Chang C, Gershwin ME. IgA deficiency and autoimmunity. Autoimmun Rev 2014; 13(2): 163–177. Dostupné z DOI: <http://dx.doi.org/10.1016/j.autrev.2013.10.005>.

  31. Rachid R, Bonilla FA The role of anti-IgA antibodies in causing adverse reactions to gamma globulin infusion in immunodeficient patients: a comprehensive review of the literature. J Allergy Clin Immunol 2012; 129(3): 628–634. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2011.06.047>.

  32. Šrotová A, Litzman J, Rumlarová Š et al. Recidivující meningitidy a vrozený deficit komplementového systému. Epidemiol Mikrobiol Imunol 2016; 65(4): 238–242.

  33. Králicková P, Buresová E, Freiberger T et al. Hereditární angioedém – opomíjená diagnóza. Vnitř Lék 2010; 56(9): 927–931.

  34. Hakl R. Současné možnosti léčby hereditárního angioedému. Vnitř Lék 2016; 62(9): 736–739.

  35. Belada D, Smolej L, Stepánková P et al. Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy. Leuk Res 2010; 34(9): e232-e234. Dostupné z DOI: <http://dx.doi.org/10.1016/j.leukres.2010.01.024>.

  36. Litzman J Hyper-IgE syndrom – další z primárních imunodeficitů, u něhož byla popsána genetická podstata. Alergie 2008; 10(1): 19–23.

  37. Woellner C, Gertz EM, Schaeffer AA et al. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job‘s syndrome/STAT3 deficiency. [Abstracts of the 13th Meeting of the European Society for Immunology. October 16–19, 2008. ‚s-Hertogenbosch, The Netherlands]. Clin Exp Immunol 2008; 154(Suppl 1): 154–155.

Labels
Allergology and clinical immunology Diabetology Endocrinology Internal medicine
Defensive and damaging inflammation: basic characteristics
IL-1 family cytokines in chronic inflammatory disorders
Heterogeneity of lymphocytes as central operating units of the immune system
Microbiota, immunity and immunologically-mediated diseases
Secondary immunodeficiency as a consequence of chronic diseases
Treatment of antibody immunodeficiency
Adverse effects of immunoglobulin therapy
Current trends in immunosuppressive treatment
The role of allergology in internal medicine today and vice versa
Anaphylactic symptoms and anaphylactic shock
Article was published in

Internal Medicine

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2019 Issue 2
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