Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

A. J. Turley, B. Gathmann, C. Bangs, M. Bradbury, S. Seneviratne, L. I. Gonzalez-Granado, S. Hackett, N. Kutukculer, H. Alachkar, S. Hambleton, H. Ritterbusch, P. Kralickova, L. Marodi, M. G. Seidel, G. Dueckers, J. Roesler, A. Huissoon, H. Baxendale, J. Litzman, P. D. Arkwright

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Introduction: Complement immunodeficiencies (excluding hereditary angioedema and mannose binding lectin deficiency) are rare. Published literature consists largely of case reports and small series. We collated data from 18 cities across Europe to provide an overview of primarily homozygous, rather than partial genotypes and their impact and management. Methods: Patients were recruited through the ESID registry. Clinical and laboratory information was collected onto standardized forms and analyzed using SPSS software. Results: Seventy-seven patients aged 1 to 68 years were identified. 44 % presented in their first decade of life. 29 % had C2 deficiency, defects in 11 other complement factors were found. 50 (65 %) had serious invasive infections. 61 % of Neisseria meningitidis infections occurred in patients with terminal pathway defects, while 74 % of Streptococcus pneumoniae infections occurred in patients with classical pathway defects (p < 0.001). Physicians in the UK were more likely to prescribe antibiotic prophylaxis than colleagues on the Continent for patients with classical pathway defects. After diagnosis, 16 % of patients suffered serious bacterial infections. Age of the patient and use of prophylactic antibiotics were not associated with subsequent infection risk. Inflammatory/autoimmune diseases were not seen in patients with terminal pathway, but in one third of patients classical and alternative pathway defects. Conclusion: The clinical phenotypes of specific complement immunodeficiencies vary considerably both in terms of the predominant bacterial pathogen, and the risk and type of auto-inflammatory disease. Appreciation of these phenotypic differences should help both immunologists and other specialists in their diagnosis and management of these rare and complex patients.

Original languageEnglish
Pages (from-to)199-205
Number of pages7
JournalJournal of Clinical Immunology
Volume35
Issue number2
DOIs
Publication statusPublished - Mar 7 2015

Keywords

  • Complement
  • Streptococcus pneumoniae
  • antibiotics
  • atypical hemolytic uremic syndrome
  • glomerulopathy
  • immunodeficiency
  • meningococcemia
  • vaccination

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Fingerprint Dive into the research topics of 'Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe'. Together they form a unique fingerprint.

  • Cite this

    Turley, A. J., Gathmann, B., Bangs, C., Bradbury, M., Seneviratne, S., Gonzalez-Granado, L. I., Hackett, S., Kutukculer, N., Alachkar, H., Hambleton, S., Ritterbusch, H., Kralickova, P., Marodi, L., Seidel, M. G., Dueckers, G., Roesler, J., Huissoon, A., Baxendale, H., Litzman, J., & Arkwright, P. D. (2015). Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe. Journal of Clinical Immunology, 35(2), 199-205. https://doi.org/10.1007/s10875-015-0137-5