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Blood, 15 July 2008, Vol. 112, No. 2, pp. 277-286.
Prepublished online as a Blood First Edition Paper on March 4, 2008; DOI 10.1182/blood-2007-11-124545.
 Previous Article | Next Article 
Submitted November 29, 2007
Accepted February 26, 2008
Common variable immunodeficiency disorders:
division into distinct clinical phenotypes
Helen Chapel*, Mary Lucas, Martin Lee, Janne Bjorkander, David Webster, Bodo Grimbacher, Clare Fieschi, Vojtech Thon, Mohammad R. Abedi, and Lennart Hammarstrom
Department of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom
Department of Biostatistics, University of California at Los Angeles, Los Angeles, CA, United States
Department of Immunology and Allergy, Goteborg, Sweden
Department of Immunology, Royal Free Hospital, London, United Kingdom
Department of Immunology and Rheumatology, Freiburg, Germany
Department of Medicine, Paris, France
Department of Clinical Immunology, Masaryk University, Brno, Czech Republic
Department of Transfusion Medicine, Orebro University Hospital, Orebro, Sweden
Department of Clinical Immunology, Karolinska Institute at KUS Huddinge, Stockholm, Sweden
* Corresponding author; email: helen.chapel{at}ndm.ox.ac.uk.
The European Common Variable Immunodeficiency Disorders registry was started in 1996, in order to define distinct clinical phenotypes and determine overlap within individual patients. Seven centres contributed patient data resulting in the largest cohort yet reported. Patients (334), validated for the diagnosis, were followed for an average of 25.6 years [9,461 patient-years]. Data was used to define five distinct clinical phenotypes: no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy and lymphoid malignancy. Eighty-three percent of patients had only one of these phenotypes. Analysis of mortality showed a considerable reduction in the last 15 years and that different phenotypes were associated with different survival times. Types of complications and clinical phenotypes varied significantly between countries, indicating the need for large, international registries.
Ages at onset of symptoms and diagnosis were shown to have a Gaussian distribution, but were not useful predictors of phenotype. The only clinical predictor was polyclonal lymphocytic infiltration, which was associated with a five-fold increased risk of lymphoid malignancy. There was widespread variation in the levels of serum immunoglobulin isotypes as well as in the percentages and absolute numbers of B cells, confirming the heterogeneity of these conditions. Higher serum IgM and lower circulating CD8 proportions were found to be predictive markers for polyclonal lymphocytic infiltration and autoimmunity, respectively.
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