title: The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital.
abstract: BACKGROUND
  Common variable immunodeficiency disorders (CVIDs) represents a heterogeneous disease spectrum that includes recurrent infections and complications such as autoimmunity, inflammatory organ disease and an increased risk of cancer. A diagnostic delay is common in CVIDs patients.
  
  
  OBJECTIVE
  To determine the spectrum of clinical manifestations, immunological characteristics, and the time to diagnosis of 61 adult CVIDs and 18 patients with a partial antibody deficiency (SADNI and IgG subclass deficiency).
  
  
  METHODS
  A retrospective cohort study was performed in patients who met the ESID/PAGID for CVIDs, IgG subclass deficiency and SADNI. Medical records were reviewed to obtain patient demographics, clinical and laboratory data.
  
  
  RESULTS
  Infections were the main presentation of all antibody deficient patients and the number of patients with infections declined during IgG therapy. The development of bronchiectasis continued despite IgG therapy, as well as the development of autoinflammatory conditions. Non-infectious disease complications were present in 30% of CVIDs patients at the time of diagnosis and this increased to 51% during follow up despite IgG therapy. The most common complications were autoimmunity or lymphoproliferative disease. The median time to diagnosis was 10 years and in the patients with non-infectious complications the time to diagnosis was considerably longer when compared to the group of patients without complications (17.6 vs. 10.2 years, p = 0.026).
  
  
  CONCLUSIONS
  In contrast to the partial antibody deficiencies we found a considerable delay in the diagnosis of CVIDs, especially in those patients who were dominated by non-infectious complications, and thus increased awareness would be beneficial. Pulmonary and other complications may continue despite adequate IgG replacement therapy suggesting other causes responsible for these complications.
authors.affiliation: Department of Internal Medicine and Infectious Diseases, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, the Netherlands. l.j.maarschalk-ellerbroek@umcutrecht.nl
authors.forename: L J
authors.initials: LJ
authors.lastname: Maarschalk-Ellerbroek
authors.forename: A I M
authors.initials: AI
authors.lastname: Hoepelman
authors.forename: J M
authors.initials: JM
authors.lastname: van Montfrans
authors.forename: P M
authors.initials: PM
authors.lastname: Ellerbroek
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006785:Hospitals, University / Q000706:statistics & numerical data; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis*; D007239:Infections / Q000175:diagnosis / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D055815:Young Adult