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Diagnostik und Therapie bei primären Immundefekten/„inborn errors of immunity“

Zeitschrift:: Wiener klinische Wochenschrift Education > Ausgabe 1-4/2019

Autoren:: Lisa Göschl, Matthias Vossen, Clemens Scheinecker, Katharina Grabmeier-Pfistershammer, Winfried F. Pickl, Elisabeth Förster-Waldl

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Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497–502. CrossRefPubMedPubMedCentral

Picard C, 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. CrossRefPubMedPubMedCentral

Bousfiha A, et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018;38(1):129–43. CrossRefPubMedPubMedCentral

Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001–2007. J Clin Immunol. 2014;34(8):954–61. CrossRefPubMedPubMedCentral

Joshi AY, et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84(1):16–22. CrossRefPubMedPubMedCentral

Grimbacher B. The European Society for Immunodeficiencies (ESID) registry 2014. Clin Exp Immunol. 2014;178(Suppl 1: p):18–20. CrossRefPubMedPubMedCentral

El-Helou SM, et al. The German National Registry of Primary Immunodeficiencies. Front Immunol. 2019;2012(2017):1272–1210. CrossRef

Bousfiha AA, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013;33(1):1–7. CrossRefPubMedPubMedCentral

Modell V, et al. Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunol Res. 2014;60(1):132–44. CrossRefPubMedPubMedCentral

10.

Seidel MG, et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763–70. CrossRefPubMedPubMedCentral

11.

Hartog NL, Williams KW, Abraham RS. “The State of the Union”: Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019;10:1783. CrossRefPubMedPubMedCentral

12.

Farmand S, et al. Leitlinie „Diagnostik auf Vorliegen einesprimären Immundefekts“ – Abklärung von Infektionsanfälligkeit, Immundysregulation und weiteren Symptomen von primären Immundefekten. AWMF 10. 2017. https://www.awmf.org/leitlinien/detail/ll/112-001.html. Zugegriffen: 11. Oct 2019.

13.

Monto AS, Sullivan KM. Acute respiratory illness in the community. frequency Illn Agents Involv Epidemiol Infect. 1993;110(1):145–60.

14.

Gray PE, Namasivayam M, Ziegler JB. Recurrent infection in children: when and how to investigate for primary immunodeficiency? J Paediatr Child Health. 2012;48(3):202–9. CrossRefPubMedPubMedCentral

15.

Chiarella SE, Grammer LC. Immune deficiency in chronic rhinosinusitis: screening and treatment. Expert Rev Clin Immunol. 2017;13(2):117–23. CrossRefPubMedPubMedCentral

16.

Aghamohammadi A, et al. Immunologic evaluation of patients with recurrent ear, nose, and throat infections. Am J Otolaryngol. 2008;29(6):385–92. CrossRefPubMedPubMedCentral

17.

Owayed A, Al-Herz W. Sinopulmonary Complications in Subjects With Primary Immunodeficiency. Respir Care. 2016;61(8):1067–72. CrossRefPubMedPubMedCentral

18.

Soler-Palacin P, et al. Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management. Respir Res. 2018;19(1):219. CrossRefPubMedPubMedCentral

19.

Wahn U, Seger R, Wahn V, Holländer GA. Pädiatrische Allergologie und Immunologie. Urban & Fischer; München 2005. ISBN 978-3-437-31345-5

20.

Ardeniz Ö, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Cl Immunol. 2009;133:198–207 CrossRef

21.

Leung J, et al. Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry. J Clin Immunol. 2018;38(6):717–26. CrossRefPubMedPubMedCentral

22.

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

23.

Schmidt RE, Grimbacher B, Witte T. Autoimmunity and primary immunodeficiency: two sides of the same coin? Nat Rev Rheumatol. 2017;14(1):7–18. CrossRef

24.

Cunningham-Rundles C. Autoimmunity in primary immune deficiency: taking lessons from our patients. Clin Exp Immunol. 2011;164(Suppl 2: p):6–11. CrossRefPubMedPubMedCentral

25.

Lierl M. Periodic fever syndromes: a diagnostic challenge for the allergist. Allergy. 2007;62(12):1349–58. CrossRefPubMedPubMedCentral

26.

Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014;46(2):112–9. CrossRefPubMedPubMedCentral

27.

Ettinger M, et al. Skin signs of primary immunodeficiencies: how to find the genes to check. Br J Dermatol. 2018;178(2):335–49. CrossRefPubMedPubMedCentral

28.

Mueller BU, Pizzo PA. Cancer in children with primary or secondary immunodeficiencies. J Pediatr. 1995;126(1):1–10. CrossRefPubMedPubMedCentral

29.

Mayor PC, et al. Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol. 2018;141(3):1028–35. CrossRefPubMedPubMedCentral

30.

Hauck F, Gennery AR, Seidel MG. Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency. Front Immunol. 2019;10:1781. CrossRefPubMedPubMedCentral

31.

Chavoshzadeh Z, Hashemitari A, Darougar S. Neurological Manifestations of Primary Immunodeficiencies. Iran J Child Neurol. 2018;12(3):7–23. PubMedPubMedCentral

32.

Arslan S, et al. How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? Ann Allergy Asthma Immunol. 2016;116(2)151–5 e1. CrossRefPubMedPubMedCentral

33.

ESID – European Society for Immunodeficiencies. 6 Warning Signs for PID in Adults. https://esid.org/Working-Parties/Clinical-Working-Party/Resources/6-Warning-Signs-for-PID-in-Adults. Zugegriffen: 11-Oct-2019.

34.

Costa-Carvalho BT, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014;34(1):10–22. CrossRefPubMedPubMedCentral

35.

Gathmann B, et al. The German national registry for primary immunodeficiencies (PID). Clin Exp Immunol. 2013;173(2):372–80. CrossRefPubMedPubMedCentral

36.

Hauge SC, et al. The association of IgA deficiency on infection rate, self-perceived health, and levels of C‑reactive protein in healthy blood donors. Apmis. 2018;126(3):248–56. CrossRefPubMedPubMedCentral

37.

Gathmann B, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):116–26. CrossRefPubMedPubMedCentral

38.

Westh L, et al. Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort. Scand J Immunol. 2017;85(6):450–61. CrossRefPubMedPubMedCentral

39.

de Vries E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167(1):108–19. CrossRefPubMedPubMedCentral

40.

Arts P, et al. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Med. 2019;11(1):38. CrossRefPubMedPubMedCentral

41.

Yska HAF, et al. Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review. J Clin Immunol. 2019;39(6):577–91. CrossRefPubMedPubMedCentral

42.

Cifaldi C, et al. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019;10:316. CrossRefPubMedPubMedCentral

43.

Cossarizza A et al (2019) Guidelines for the use of flow cytometry and cell sorting in immunological studies. Eur J Immunol 49:1457–1973. https://doi.org/10.1002/eji.201970107 CrossRefPubMedPubMedCentral

44.

Shabaninejad H, et al. Cost-effectiveness analysis of subcutaneous immunoglobulin replacement therapy in Iranian patients with primary immunodeficiencies. Med J Islam Repub Iran. 2017;31:94. CrossRefPubMedPubMedCentral

45.

Quinti I, et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol. 2011;31(3):315–22. CrossRefPubMedPubMedCentral

46.

Chapel HM (1993) Hypogammaglobulinaemia and replacement therapy. Q J Med 86(2):136–137 PubMedPubMedCentral

47.

Gardulf A et al (1995) Subcutaneous immunoglobulin replacement in patients with primary antibody deficiencies: safety and costs. Lancet 345(8946):365–369 CrossRefPubMedPubMedCentral

48.

AWMF. Therapie primärer Antikörpermangelerkrankungen. 2019. https://www.awmf.org/leitlinien/detail/ll/189-001.html. Zugegriffen: Online.

49.

Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun. 2005;25(1):57–62. CrossRefPubMedPubMedCentral

50.

Gobert D, et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol. 2011;155(4):498–508. CrossRefPubMedPubMedCentral

51.

Chua I, et al. Anti-tumour necrosis factor-alpha therapy for severe enteropathy in patients with common variable immunodeficiency (CVID). Clin Exp Immunol. 2007;150(2):306–11. CrossRefPubMedPubMedCentral

52.

Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol. 2013;11(9):1050–63. CrossRefPubMedPubMedCentral

53.

Franxman TJ, Howe LE, Baker JR Jr.. Infliximab for treatment of granulomatous disease in patients with common variable immunodeficiency. J Clin Immunol. 2014;34(7):820–7. CrossRefPubMedPubMedCentral

54.

Lee AH, Levinson AI, Schumacher HR Jr.. Hypogammaglobulinemia and rheumatic disease. Semin Arthritis Rheum. 1993;22(4):252–64. CrossRefPubMedPubMedCentral

55.

Swierkot J, et al. Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. Clin Rheumatol. 2006;25(1):92–4. CrossRefPubMedPubMedCentral

56.

Westwell-Roper C, et al. Periodic fever syndromes: beyond the single gene paradigm. Pediatr Rheumatol Online J. 2019;17(1):22. CrossRefPubMedPubMedCentral

57.

Booth C, Romano R, Roncarolo MG, Thrasher AJ (2019) Gene therapy for primary immunodeficiency. Hum Mol Genet. https://doi.org/10.1093/hmg/ddz170

58.

Porteus MH (2019) A new class of medicines through DNA editing. N Engl J Med 380(10):947–959 CrossRefPubMedPubMedCentral

59.

Taki M, Miah T, Secord E (2019) Newborn screening for severe combined immunodeficiency. Pediatr Clin North Am 66(5):913–923 CrossRefPubMedPubMedCentral

Titel: Diagnostik und Therapie bei primären Immundefekten/„inborn errors of immunity“
Autoren:: Lisa Göschl
Matthias Vossen
Clemens Scheinecker
Katharina Grabmeier-Pfistershammer
Winfried F. Pickl
Elisabeth Förster-Waldl
Publikationsdatum: 09.03.2020
DOI: https://doi.org/10.1007/s11812-020-00098-1
Verlag: Springer Vienna
Zeitschrift: Wiener klinische Wochenschrift Education
Ausgabe 1-4/2019
Print ISSN: 1863-3579
Elektronische ISSN: 1863-3765

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